The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- .

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 10572083_59 46, X, idic(Y)(q?)c, der(18)t(11;18)(q13;p11)/ 46, idem, del(3)(p13), add(4)(p14), add(6)(p23), add(7)(p36), del(13)(q12q14), t(18;19)(q11;q13) acute myeloid leukemia p36*       10572083 59 *7p36 does not exist (q36?); Mitelman Database, Reference No. 8407 Edit
2 10360374_2_2 46, XX, inv(7)(p21q23), t(9;22)(q34;q11) [21]/ 46, XX, inv(7)(p23q23) [4] adult acute lymphocytic leukemia p23 q23     10360374 2 Mitelman Database, Reference No. 8064 Edit
3 NIGMS_GM06097 46, XX, der(17)t(7;17)(p22.3;p13.2). ish der(17)(D17S379-, RARA+) Miller-Dieker Lissencephaly Syndrome (MDLS; 17p13.3): typical facies (bitemporal hollowing, thin downturned upper lip, micrograthia; micocephaly, high arched palate), ventricular septal defect p22.3       GM06097 trisomy of 7p22.3-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
4 11005146_2 45, XY, psu dic(22;7)(p13;p22.3)del(7)(p11.2p15.1) de novo craniosynostosis, microcephaly, scaphocephaly, bilateral cataracts, dysmorphic facies (frontal bossing, epicanthal folds, prominent ears, broad short nose with a low nasal bridge, micrognathia, retrognathia), bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, deep palmar creases, developmental delay, hypospadias, curvature of the penis, hypotonia p22.3       11005146, 12548740 case 22 [12548740]   Edit
5 12431259 46, XY, r(7)(p22.3q36.3). ish r(7pter+, 7qtel+, AHT-) intrauterine growth retardation, short stature, microcephaly, hyperactive, clinodactyly of V finger, normal mental/motor development, short attention span, hyperactive behaviour p22.3 q36.3     12431259     Edit
6 12362030_2 46, XX, der(7)t(7;16)(p22.3;p13.3) pat mental retardation, cleft palate, brain anomalies, pachygyria, optic nerve hypoplasia, genitourinary abnormalities, vesicoureteral reflux, hydronephrosis, dysmorphic features, ear abnormalities, micrognathia, 2-3 toe syndactyly p22.3       12362030, 15834244 case 2 [12362030], patient 12 [15834244] monosomy of 7p22.3-pter Edit
7 8922097_1 46, XY, r(7)(p22.3q36.3) [80%]/ 45, XY, -7 [20%] short stature, facial dysmorphism, caf-au-lait spots, pigmented naevi p22.3 q36.3     8922097, 10982483 case 12 [10982483]   Edit
8 15039973_DD8903322 46, XX, t(2;7)(p23.3;p22.3) de novo phenotype not given; prenatal diagnosis was done p22.3       15039973 DD8903322   Edit
9 6745939_4 46, XX, der(17)t(7;17)(p22.3;p13.2) pat aborted fetus; mild micrognathia, prominent philtrum, bilateral 5th finger clinodactyly, sacral crease, cystic dysplasia in the left kidney [autopsy] p22.3       6745939 case 4 (C-83-99) sibling of 6834189_3; trisomy of 7p22.3-pter Edit
10 6834189_3 46, XX, der(17)t(7;17)(p22.3;p13.2) pat Miller-Dieker syndrome p22.3       6834189, 6745939 case 3 [6745939, 6834189] sibling of 6745939_4; trisomy of 7p22.3-pter Edit
11 19375526 45,X,der(7)t(Y;7)(p11.1w11.2;p22.3)[122]/4 5,X[48]de novo Turner syndrome, mild growth retardation, systolicmurmur, patentductus arteriosus, bicuspid aortic valve, short stature, short neck with low posterior hairline, epicanthus, non-constant concomitantstrabismus of right eye, long thin straighteyebrows, long eyelashes, prominent chin and prognatism, vaginal and clitoral hypertrophy, abnormal ovaries, displaced uterus p22.3       19375526   right eye strabismus present in father; maternally derived X-chromosome Edit
12 23509645_2 fetal: 46,XX,r(7)(p22q36).ish r(7)(p22q36)(pVYS230A-,p VYS231A-)dn. arr 7p22.3(54,215-170,3 96)x1, 7q36.1q36.3(149,415,502-159,1 18,537)x1 [hg19] fetal holoprosencephaly, hypotelorism p22.3 p22.3     23509645   pregnancy terminated; ~170 kb deletion Edit
13 24039075 46, XY.arr 7p22.3(36480-523731)x0 [hg19] Raine syndrome, protruding tongue, short stature, hypoplastic distal phalanges, wormian bones, pyriform aperture stenosis p22.3 p22.3     24039075   ~487kb deletion; both parents were heterozygous for the deletion; discussion of FAM20C as candidate gene; sensorineural deafness in the paternal side Edit
14 24458843 4?,XX.arr 7p22.3(46,845–665,1 58)x3 de novo sparse scalp hair, wide columella extending below alae nasi, webbing at elbows, broadfinger tips, short distal phalanx of fingers, swan neck deformity offingers, scoliosis, tall vertebrae, short fibulae, short fourth metatarsal bone, abnormal distal humeri, unilateral clubfoot, midface retrusion, telecanthus, overhanging nasal tip, flat nose, broad and low hangingcolumella, wide nasal base, crowded teeth, low-set ears,pectus carinatum p22.3 p22.3     24458843   ~618 kb duplication Edit
15 24311514 4?,XX.arr 7p22.3 (2,194,515–2,319,8 39)x3 [hg19] developmental delay, hypotonia, tetralogy of Fallot, microcephaly, nonverbal p22.3 p22.3     24311514   ~125 kb duplication including FTSJ2 and NUDT1 genes and partially including MAD1L1 and SNX8 genes; discussion of SNX8 as candidate gene Edit
16 22875624_3_2 diagnosis: 45,XX,-7[11]/46,X X[11].nuc ish(ETV6x2)[200] followup: 45,XX,-7[21]/46,X X[4].nuc ish(D7Z1,FRA7G)x1 [86/100],(ETV6x1)[58/2 00].arr 7p22.3q36.3(141,322-158,812,2 47)x1~2,12p13.31p12.3(10,596,6 49-17,742,422)x1~2 myelodysplastic syndromes/refractory cytopenia with multilineage dysplasia p22.3 q36.3     22875624 SVHM3   Edit
17 22875624_1_1 45,XX,-7[19].nuc ish(ETV6x1)[106/1 97].arr 7p22.3q36.2(141,322-158,812,2 47)x1~2,12p13.2p13.1(11,646,2 52-12,981,168)x1~2 myelodysplastic syndromes/refractory cytopenia with multilineage dysplasia p22.3 q36.2     22875624 SVHM1   Edit
18 12058345_AU044 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 GDB:1317384/ D7S2017   12058345 Family AU044 deletion size 183 kb Edit
19 12058345_AU098 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 D7S472/ D7S1939   12058345 Family AU098 deletion size 96 kb Edit
20 12457405 46, XX, der(7)t(7;16)(p22.3;q24.1) de novo [detected by FISH & CGH] psychomotor and mental retardation, high forehead with bitemporal narrowing, broad nasal bridge, broadened nose, downslanting palpebral fissures, abnormal ears, vertebral abnormalities, cardiac defect, genital hypoplasia, anal abnormalities p22.2 - 22.1   D7S531/ D7S517   12457405   monosoy of 7p22.3-pter (by FISH); molecular cytogenetic data is not consistent with karyotype Edit
21 Unpublished_HH303 4?, X?, t(7;10)(p22;p11.2) phenotype not given p22.2   D7S2649/ D7S544E   HH303 patient cells: ecacc.org.uk; somatic cell hybrid HH303 RJK 3: www.uni-marburg.de/h umgen; data unpublished Edit
22 3538996_PA13b 46, XY, inv(7)(p22.2q21.13) de novo sterility p22.2 q21.13     3538996 PA13b previously published elsewhere Edit
23 16909388_6545 del(7)(p22.2p22.1) de novo pre-/postnatal growth retardation, microcephaly, patent ductus arteriosus, perimembranous ventricular septal defect, failure to thrive, severe developmental delay, brachycephaly, epicanthic folds, midface hypoplasia, lateral flare of eyebrows, syndactyly of II-III toes p22.2 p22.1 rs10499339 rs1368052 16909388 6545 3.6 Mb deletion Edit
24 23765050_28 46,X?.arr 7p22.2p21.3(3,612,717-8,278,5 10)x3 autism p22.2 p21.3     23765050 Subject 28 ~4.67 Mb duplication includes FOXK1 Edit
25 12058345_AU026 46, XX, del(7)(p22.1p22.1) [not visible] autism/ pervasive developmental disorder (PDD) p22.1 p22.1 D7S472/ D7S517   12058345 Family AU026 69-kb deletion containing D7S517 Edit
26 3839444_1 46, XX, der(7)t(3;7)(p24.3;p22.1) mat psychomotor developmental delay, especially language delay, facial dysmorphism, asymmetric skull with a prominent right frontal boss, flattened face and broad neck, antimongoloid slant of eyes, esotropia, short nose with flattened base and small pit at the top of the philtrum, microstomia, thick lips, high arched palate, retroverted ears with excess folds, epileptic signs p22.1       3839444 case 1 monosomy of 7p22.1-pter Edit
27 8163277 46, XX, t(1;3)(p22;q21), t(7;12)(p22;q13) [20] hemangiopericytoma of the tongue p22.1   ACTB   8163277, 15111311, 15555571 5 [15111311, 15555571] ACTB-GLI fusion gene; ACTB intron 3 fuses to GLI intron 5, separated by ~170 bp inverted duplication of ACTB including part of exon 3 and intron 3; Mitelman Database, Reference No. 5488 & 10573 Edit
28 2309771_familyG_mother 46, XX, inv(7)(p22.1q34) phenotypically normal p22.1 q34     2309771 family G, mother mother of 2309771_familyG_infant Edit
29 9007337 46, XY, dir dup (7)(p21.2p22.1) de novo supravalvular pulmonary stenosis, atrial septum defect, mental retardation p22.1 p21.2     9007337, 10494083 case 44 [10494083]   Edit
30 9792856_CP_2 46, XY, t(7;8)(p21;q13) de novo [microdeletion del(7)(p21p22.1)] craniosynostosis, facial asymmetry, low frontal hairline, ptosis, brachdeactyly, learning disabilities p22.1 p21 D7S481/ D7S2514 D7S503/ D7S654 9792856 CP   Edit
31 ECACC_91071217 46, XX, t(2;7)(p23.1;p22.1) de novo phenotype not given p22.1       91071217 (cell line: DD0348) www.ecacc.org.uk; data unpublished Edit
32 14513358_W63P 46, XY, del(7)(p15.3p21.3) craniosynostosis, metopic synostosis, facial and hand dysmorphisms, developmental delay p22.1 p21.1 D7S2514 D7S2510 14513358 W63P 797 bp to 14.4 Mb deletion; molecular cytogenetic data is not consistent with karyotype Edit
33 14513358_C2535J 46, XY, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, developmental delay p22.1 p21.1 D7S481 D7S2510 14513358 C2535J 510 kb to 16 Mb deletion; molecular cytogenetic data is not consistent with karyotype Edit
34 NIGMS_GM00633_ 1 46, XY, t(7;10)(p21.2;q11.21) del(7)(p21.2p22.1) congenital malformations, severe retardation p22.1 p21.2     GM00663 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; see 1132253_1 & _2 (fibroblast from same proband) Edit
35 15111311_1 45, XY, t(7;12)(p22;q13), inv(10)(p11q21)c, der(15;16)(q10;p10) [25] hemangiopericytoma of the calf p22.1   ACTB   15111311, 15555571 1 ACTB-GLI fusion gene; first nucleotide of ACTB exon 3 fuses to GLI exon 7, accompanied by ~650bp deletion including almost entire exon 3; Mitelman Database, Reference No. 10573 Edit
36 15111311_2 46, XX, t(7;12)(p22;q13) [20] hemangiopericytoma of the calf p22.1   ACTB   15111311, 15555571 2 ACTB-GLI fusion gene; ACTB intron 1 fuses to GLI intron 5; translocation resulted in loss of ACTB exon 2-6; Mitelman Database, Reference No. 10573 Edit
37 15111311_3 45, XY, der(1)t(1;?7)(p36;p?22), add(2)(p25), add(5)(p15), add(6)(p?21.3), der(7)t(7;12)(p21;q?15), -12 [19] hemangiopericytoma of the tongue p22.1   ACTB   15111311, 15555571 3 ACTB-GLI fusion gene; ACTB intron 3 fuses to GLI intron 6; translocation resulted in loss of ACTB exon 4-6; Mitelman Database, Reference No. 10573 Edit
38 15111311_4 46, XX, t(7;12)(?p22;?q15) [17] hemangiopericytoma of the stomach p22.1   ACTB   15111311, 15555571 4 ACTB-GLI fusion gene; ACTB intron 2 fuses to GLI intron 5; translocation resulted in loss of ACTB exon 3-6; Mitelman Database, Reference No. 10573 Edit
39 1132253_1 46, XY, t(7;10)(p21.2;q11.21) del(7)(p21.2p22.1) congenital malformations; severe retardation p22.1 p21.3 D7S537E/ SHGC-17982 D7S664/ Cda0ld02 1132253, 2431619, 1663489, 7607696 GM00044 (GM44, GM0044) fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 0044 RAG 1-15, 0044 RAG 9-40-5: www.uni-marburg.de/h umgen; molecular data unpublished; see NIGMS_GM00633_ 1 & _2 (lymphoblast from same proband); molecular cytogenetic data is not consistent with karyotype Edit
40 15200505_15 46, XY, der(7)t(7;17)(p22.1;q25.1) pat severe mental retardation, pre- & postnatal developmental delay, micro-brachycephaly, synophrys, long eyelashes, epicanthic fold, flat nasal bridge, bulbous nose, anteverted nostrils, long philtrum, prominent upper lip, high-arched palate, micrognathia, low set dysmorphic ears, postaxial polydactyly of left hand and foot, hypertrichosis, cryptorchidism p22.1   RP11-89J1/ RP11-425P5   15200505 patient 15 monosomy of 7p22.1-pter; breakpoint at 7q lies at about 5.5 Mb from the telomere; father had balanced t(7;17) Edit
41 16357831 46, XY, t(4;6)(q24;p11), del(5)(q15), t(11;18)(q23;q21) [24] [cryptic t(7;21)(p22;q22) was detected by FISH] acute myeloblastic leukemia - M0 p22.1   USP42   16357831   RUNX1/USP42 fusion detected; breakpoint at 7p22 lies in intron 7 of USP42; fusion gene Mitelman Database Reference No. 11379 Edit
42 Papadopoulou_ESHG2006 46, XX. [del(7)(q11.23q11.23) de novo was detected by array CGH] psychomotor retardation, stereotypic behavior, generalized hypotonia, peculiar thin Wolf-Hirschhorn syndrome-like facies (high forehead, hypertelorism, slight palpebral fissures, pale highly arched eyebrows, thin lips, high narrow palate, micrognathia, straight and thin nose with a broad bridge, slightly angulated pointed tip and narrow inverted nostrils), low set ears, abnormal palmar creases, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger p22.1 p13       Papadopoulou et.al., ESHG, 2006, P0007 Edit
43 1623626_1 46, XX, ins(7)(p22.1p21.4q36.1) mat had three first trimester miscarriages and one second trimester intrauterine death p22.1       1623626 proband mother, sister, maternal uncle and cousins have same insertion Edit
44 17103460 46, XX, dup(7). ish dup(7)(pter-> p13::p22.1-> qter)(wcp7+) de novo IUGR, mental retardation, developmental delay, stereotypic behaviour (holding the hands in front of the face and bending of legs), hypotonia, microcephaly, large anterior fontanel, hypertelorism, high forehead, hypertelorism, slight downslanting palpebral fissures, pale highly arched eyebrows, distinct mouth with thin lips and downturned corners, high narrow palate, micrognathia, broad nasal bridge, low-set ears, kyphoscoliosis, irregular form of the vertebrae, narrow thorax, bilateral camptodactyly of the index finger, abnormal palmar creases p22.1 p13     17103460     Edit
45 18475318 46,XY,t(7;16)(p22;p11)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-730B22   18475318     Edit
46 21302340_15 4?,XY.arr 7p22.1(5,100,000–6,500,0 00)x3 de novo syndromic ASD p22.1 p22.1     21302340 case 15 ~1.4Mb duplication encompasses SLC29A4; NCBI build 36.1 Edit
47 20414355; 18475318 46,XY,t(7;16)(p22;p11.2)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-152I5 RP11-730B22 20414355; 18475318   discussion of Q6NUR6 (RNF216L) as candidate gene Edit
48 23765050_14 46,X?.arr 5q22.2(112,270,214-112,315,4 53)x1,7p22.1(4,735,218-4,908,0 23)x3 [hg18] autism p22.1 p22.1     23765050 Subject 14 ~200 kb duplication includes RADIL, PAPOLB, FOXK1, KIAA0415 Edit
49 22495914 46,XX.arr 7p22.1(5,337,072-6,316,9 15)x3 de novo [hg18] intellectual disability, macrocephaly spastic diplegic cerebral palsy, abnormal EEG, internal hydrocephalus, vegetodystonia, truncual obesity, low-set and protuding ears, downslanting palpebral fissures, ocular hypertelorism, short nose, anteverted nares, midface hypoplasia, facial asymmetry, severe microretrognathia, high and narrow palate, microstomia, thin lips, midline pseudo-cleft upper lip, tapering fingers, abnormal palmar dermatoglyphic patterns, contractures of the Achilles tendons, scoliosis, short Vth toes p22.1 p22.1     22495914   979.8 kb duplication; discussion of ACTB as candidate gene Edit
50 21837366_S2 46,XY.arr 3p14.1(63,865,947-63,903,7 59)x1 de novo,7p22.1(6,410,321-6,773,8 92)x1 de novo [hg19] autistic disorder p22.1 p22.1     21837366 S2 ~ 363 kb deletion Edit
51 24214456 46,XX. arr 7p22.1(5,990,207-6,026,9 96)x1 de novo Beckwith–Wiedemann syndrome, fibroadenoma of the breast p22.1 p22.1     24214456   ~37 kb deletion; discussion of PMS2 as candidate gene Edit
52 7206305_1 46, XX, t(4;7)(q31;p22)del(7)(q32) de novo microcephaly, hypertelorism, exophthalmus, divergent strabismus, blue sclera, micrognathia, irregular alveolar ridge, systolic heart murmurs (VSD, PDA), sacral dimple, cutis marmorata p22       7206305, 6758992, 3354600, 8135290 case 23 [6758992]   Edit
53 624544_mother 46, XX, t(7;12)(p22;p11) mat phenotypically normal except relatively short 3rd and 4th fingers on the right hand and short 4th and 5th fingers on the lefthand, broad outgrowth of the medial phalangeal part of the metatarsophalangeal joints (teardrop-deformity) p22       624544 mother, lll-4 her mother (grandmother, II-3) had same translocation and balanced t(2;6); mother of 624544_IV-3 Edit
54 624544_sibling 46, XX, t(7;12)(p22;p11) mat phenotypically normal p22       624544 sibling, IV-2 sibling of 624544_IV-3 Edit
55 624544_aunt 46, XX, t(2;6)(q35;q23), t(7;12)(p22;p11) mat phenotypically normal except relatively short 3rd and 4th fingers on the right hand and short 4th and 5th fingers on the lefthand; multiple spontaneous abortions p22       624544 aunt, lll-2 her mother (grandmother, II-3) had same double translocations; aunt of 624544_IV-3 Edit
56 837945 45, XX, der(7)t(7;13)(p22;q12.1), -13 de novo mental retardation; hemihypertrophyleft side; developmental delay; fibroblast culture from right arm skin biopsy p22       837945, 7521123 GM01840 [837945], case 13 [7521123] monosomy of 7p22-pter; fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
57 2225528_7 46, XX, der(7)t(7;11)(p22;q14) patent ductus arteriosus, atrial septal defect p22       2225528 case 7 (BWIS#2231) monosomy of 7p22-pter Edit
58 8266989_mother 46, XY, t(2;7)(p23;p22) brachycephalic, a low anterior hairline, flat face, mild ptosis of the eyelids, small ears with overfolding of the upper helix of the left ear, highly arched palate, and minimal soft tissue syndactyly of the second and third fingers p22       8266989 mother   Edit
59 9660064 46, XX, der(8)t(8;15)(q24.3;q24), der(15)t(7;15)(p22;q24) de novo macrocephaly, seizures, mild dysmorphic feautres, developmental delay, hyperpigmentation, caf-au-lait spots p22       9660064, 10494083 case 47 [10494083] trisomy of 7p22-pter Edit
60 11746010 46, XX or XY, der(7)t(4;7)(q28;p22) mat or pat mental and developmental retardation, brachycephaly & small head, hypotonia, restricted speech, seizures, dysmorphic features, high arched palate, cryptorchidism (males only) p22       11746010 proband (IV-19), brother of proband (IV-20), cousin of proband (IV-18) monosomry of 7p22-pter; mother of IV-19 & 20 and father of IV-18 had balanced t(4;7) Edit
61 Unpublished_37 46, XY, t(7;9)(p22;q34) speech problems p22       37 several affected family members; data unpublished Edit
62 123836 47, XX, t(7;11;21)(p21-22;q13;q21), +21 [fragment of 7p22-pter was not recognizable] Down's syndrome p22 - 21       123836 two siblings mother and phenotypically healthy sibling had same translocation Edit
63 11417483_23 46, XY, -3, del(5)(q14q35), -7, add(7)(p22), der(11)t(3;11)(p12;p14), +2mar [30]/ 46, XY [1] myelodysplastic syndrome p22       11417483 23   Edit
64 1552550 46, XX, inv(7)(p22q11.23), r(8)(p23q24.3) de novo congenital microcephaly, psychomotor developmental delay, high arched palate, prominent nose, no speech p22 q11.23     1552550     Edit
65 7616545_T8 46, XY, inv(7)(p22q21.3) de novo bilateral split hand/split foot, haemangioma p22 q21.3   D7S527/ D7S1812 7616545, 8733122, 8782053, 10049579, 12690205 T8 [8733122, 10049579], ref. 20 [8782053]   Edit
66 9415687_father 46, XY, inv(7)(p22q22) phenotypically normal p22 q22     9415687 father   Edit
67 10590434_father 46, XY, inv(7)(p22q31.3) phenotypically normal p22 q31.33   D7S490/ D7S686 10590434 father   Edit
68 8956866_19 46, XY, inv(7)(p22q32), del(13)(q12q14) [15]/ 46, XY [9] chronic lymphocytic leukemia p22 q32     8956866 19 Mitelman Database, Reference No. 6667 Edit
69 11992485_1 46, XX, dup(7)(?p15.3?p22) [75]/ 46, XX [15] global intellectual impairment, rebellious behaviour, psychosis, shallow supraorbital ridges, large nose, high palate p22 p15.3     11992485 patient 1 mother of 11992485_2 Edit
70 11992485_2 46, XY, dup(7)(?p15.3?p22) mat hypertelorism, constipation, hypotonia, high palate, atrial septal defect, tethered penis p22 p15.3     11992485 patient 2 son of 11992485_1 Edit
71 3879442 46, XX, dup(7)(p13p22) de novo [82%]/ 46, XX [18%] developmental delay, dolichocephaly, ocular hypertelorism, high arched palate, retrognathia p22 p13     3879442, 9297445, 10494083 case 4 [9297445], case 11 [10494083]   Edit
72 4145271_1 46, XY, r(7)(p22q36) [57]/ 46, XY, r(7) [double size ring, 2]/ 45, XY, -7 [2]/ 47, XY, r(7), +r(7) [1]/ 46, XY [1] craniosynostosis, microcephaly, severe mental retardation, short stature, unilateral proptosis, ptosis, microcornea, small penis, first-degree hypospaidas, undescended testes p22 q36     537019, 4145271, 1002161, 711238, 539602, 7172483, 6758992, 4043965, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 1 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 33 [6758992], case 28 [7521123]   Edit
73 4145271_2 46, XY, r(7)(p22q36) [52]/ 46, XY, r(7) [double size ring, 1]/ 45, XY, -7 [4]/ 47, XY, r(7), +r(7) [3]/ 46, XY [2] normal intelligence, short stature, microcephaly, asymmetry of skull, sacral dimple, enlarged space between I and II toes p22 q36     4145271, 1002161, 711238, 539602, 537019, 7172483, 6758992, 3150243, 2395166, 7521123, 8362903, 2189730, 10982483 case 2 [4145271, 1002161, 539602 (Table 1), 537019 (Table 2), 8362903, 10982483], case 34 [6758992], case 15 [7521123]   Edit
74 2189730 46, XY, r(7)(p22q36)/ 46, XY growth failure, microcephaly, achromic spots and multiple pigmented naevi p22 q36     2189730, 8362903, 10982483 case 7 [8362903, 10982483]   Edit
75 1746606 46, XY, r(7)(p22q36) [35]/ 46, XY, partial dup r(7) [3]/ 46, XY, dup r(7) [1]/ 46, XY, der(7)r(7) [1]/ 45, XY, -7 [1] congenital cyanotic heart disease, situs inversus, capillary hemangiomata, respiratory problems, renal problems, low birth weight, growth retardation, microcephaly p22 q36     1746606, 8362903, 10982483 case 9 [8362903, 10982483] de novo Edit
76 8362903 46, XY, r(7)(p22q36) [95%]/ 46, XY [5%] severe mental retardation, growth failure, microcephaly, cleft lip and palate, caf-au-lait spots, nevus flammeus, genital abnormalities, traits of holoprosencephaly p22 q36     8362903, 10982483 case 10 [10982483]   Edit
77 8911601_1 46, XY, r(7)(p22q36)del(7)(q36.3q36.3)[90]/ 45, -7 [8]/ 46, XY, dup r(7) [1]/ 47, XY, r(7), +r(7) [1] hypotelorism, proptosis, single nostril, cleft lip/palate, ambiguous genitalia, semilobar holoprosencephaly p22 q36     8911601, 9254845, 10982483 859 [9254845], case 11 [10982483]   Edit
78 3150243 46, XX, r(7)(p22q36) [46]/ 46, XX, dic r(7) [1]/ 46, XX, -7 [3] multiple caf-au-lait spots, hypotonic, tonic seizures, developmental delay, mental retardation p22 q36     3150243, 8362903, 10982483 case 6 [8362903, 10982483]   Edit
79 9254845_884 46, XX, r(7)(p22q36) developmental delay, retardation, microcephaly, dysmorphia, no holoprosencephaly p22 q36     9254845 884   Edit
80 NIGMS_GM03666 47, XY, +dic(15)(q11)/ 47, XY, inv(7)(p22q32), +dic(15) [38%] phenotypically normal p22 q32     GM03666 inv(7) is present in 38% of cells; fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
81 3708158_27 46, XY, del(7)(p11.2p22) refractory anemia with excess of blasts p22 p11.2     3708158 27 Mitelman Database, Reference No. 1551 Edit
82 2842036_GOS21_2 45, XY, ins(1;7)(q32;p12p22), i(7)(q10), -17 Wilms tumor p22 p12     2842036 GOS 21 Mitelman Database, Reference No. 2595 Edit
83 10360374_10_1 46, XY, del(9)(p23) [25]/ 46, XY, -5, -7, der(7)t(7;?)(p22;?)del(7)(q31.3), +mar [19] adult acute lymphocytic leukemia p22       10360374 10 Mitelman Database, Reference No. 8064 Edit
84 10360374_14_1 47, XY, inv(7)(p13p22), -7, der(9)del(9)(p13)t(9;22)(q34;q11), -19, +3mar [22] adult acute lymphocytic leukemia p22 p13     10360374 14 Mitelman Database, Reference No. 8064 Edit
85 9690521_GOS44_1 LOH(7) Wilms tumor p22 p15 D7S664/ 116XH6 GDB:1317612/ D7S638 9690521, 12461744 GOS 44 LOH on both 7p Edit
86 11595023_5 46, XX, der(7)t(7;16)(p22;q24) de novo dolichocephaly, hypertelorism, micrognathia, vertebral anomalies, brain stem dysfunction, anteriorly placed anus p22       11595023 proband (II-2), family 5 monosomy of 7p22-pter Edit
87 123589_4_older 47, XY, +der(21)t(7;21)(p22;q22) mat [16]/ 46, XY [112] mental retardation, hyperkinetic behaviour, small ears p22       123589, 2363431, 10494083 case 4 (III-1, older sib) [123589], case 45 [10494083] trisomy of 7p22-pter; sibling of 123589_4_younger; mother and sister carried balanced t(7;21) Edit
88 12913872_F_2 46, XX, ins(7)(p22q32q31.1) fertile; terminations of pregnancy or miscarriage in two out of three pregnancies p22       12913872 case F   Edit
89 14679581_4_1 46, XY, inv(7)(7pter-> 7p22::7q21.11-> 7p22::7q21.11-> 7qter), der(10)t(7;10;12)(12qter-> 12q21.3::7q21.11-> 7q21.11::10p13-> 10qter), der(12)t(10;12)(12pter-> 12q21.3::10p13-> 10pter) psychomotor delay, large skull, frontal bossing with receding frontal hairline, sparse eyebrows and eyelashes, large nose, small mouth, speech problems p22 q21.11   RP4-802A9/ RP5-897G10 14679581 patient 4   Edit
90 10466423 46, X, rea(Y;1;6;7)(Ypter-> Yq12::7p22-> 7pter; 1pter-> 1p36.1::1p32-> 1qter; 6pter-> 6q21; 7qter->7p22::1p32-> 1p34::6q21-> 6q23::1p34-> 1p36.1::6q23-> 6qter), inv(15)(q13q26.1) de novo. ish rea(Y;1;6;7)(cy2.1-, 109A+; wcp1+, D1Z2+; wcp6+, D6S152-, 2158e3-; wcp7+, 109A6-, wcp1, wcp6+, D6S152+, wcp1+, wcp6+, 215823+), inv(15)(wcp15+, SNRPN st, PML mv) [characterized by FISH] microcephaly, hyperactive, abnormal fingers, stiff joints, speech delay p22       10466423 FB   Edit
91 12119211 46, XX, der(7)t(4;7)(q27;p22) pat severe mental retardation, growth retardation, hearing impairment, minor foot, thumb and facial anomalies p22       12119211   monosomy 7p22-pter; phenotype from trisomy 4q syndrome Edit
92 624544_proband 46, XY, der(7)t(7;12)(p22;p11) mat mental and motor retardation, hypotonia, high prominent forehead, flat occiput, flat face, broad eyebrows, nystagmus, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, short neck, short fingers and toes, spade-shaped tapering fingers p22       624544 proband, IV-3 (VR) monosoy of 7p22-pter; mother had balanced t(7;12) Edit
93 11907622_t(6;7) 46, XY, t(6;7)(p21;p22) azoospermia p22       11907622 MCN ID: 20020035-999 first reported in Wang et al., 1997, Chin J Birth Health Hered 5: 96-9; www.mcndb.org Edit
94 1052767_RF 46, XY, t(7;17)(p22;q21) de novo infertility p22       1052767 R.F. (PK230/11/73); MCN ID: 19750009-999 www.mcndb.org Edit
95 50273_1 46, XX, t(6;7)(p11;p22) mat ovarian dysfunction, uterus bicornis subseptus, streak gonad p22       50273 case 1; MCN ID: 19750002-999 healthy mother had same translocation; www.mcndb.org Edit
96 9147109_t(2;7) 46, XY, t(2;7)(q23;p22) mat infertility p22       9147109 MCN ID: 19930002-178 www.mcndb.org Edit
97 8351488 46, XY, t(Y;7)(q11.2;p22) azoospermia p22       8351488 MCN ID: 19930017-99 www.mcndb.org Edit
98 3490211_11_1 4?, X?, t(X;?)(q26;?), del(1)(p32), del(1)(p32)(q41), del(1)(p13), del(5)(p13), del(6)(q21), t(?2;7)(7qter>7p22 or p15::2q21 or q13>2qter), del(7)(p11), t(9;?)(9pter>9qter::?), t(11;?)(11qter>11p13::?), t(?;11;?)(?::11qter>11p13::?), t(19;?) and some unidentified [not fully karyotyped] non-Hodgkin's lymphoma: diffuse, histiocytic p22 p15     3490211 11   Edit
99 3315191_N41 45, X, -Y, add(2)(q37), del(2)(p11p13), add(3)(q27), del(6)(q21q25), add(7)(p22), -8, -12, -13, -13, +3mar [15]/ 46, XY [1] diffuse large B-cell lymphoma p22       3315191 N41 Mitelman Databaase, Reference No. 2345 Edit
100 7039815_10_3 73<3n>, XX, -X, -2, +4, -6, +7, +add(7)(p22), del(7)(q32)x3, del(9)(q22)x2, add(10)(p15), del(10)(p14), add(11)(q25), +12, -14, -16, add(17)(q25), +18, add(19)(q13), +20, -21, -22, +5mar [12] / 46, XY [1] diffuse large B-cell lymphoma p22 qter     7039815, 3315191 10 [7039815], N10 [3315191] Mitelman Databaase, Reference No. 2345 Edit
101 2990318 46, XX [169]/ 46, XX, t(2;7)(q33;p22) [12]/ 46, XX, t(1;21)(q34;q22) [2]/ 46, XX, t(2;5)(p14;q32) [1%]/ 46, XX, t(6;7)(p21;p22) [1]/ 46, XX, del(1)t(1;13)(p21p31;q34) [1]/ 45, XX, -1, -13, +dic(1;13)(p35;q32?) [0.5%]/ 46, XX, r(2)(p25q11?) [1]/ 46, XX, del(2)(q11) [1]/ 46, XX, del(3)(p21) [1]/ 46, XX, del(4)(p11) [1]/ 46, XX, 9q+ [0.5%]/ 46, XX, 12p+ [2]/ other karyotypes [6] Wilms' tumor p22       2990318     Edit
102 6235485_lab46_t(7;20) 46, XX, t(7;20)(p22;q11) mat phenotype not given p22       6235485 balanced autosomal rearrangement from lab 46 amniocentesis Edit
103 ECACC_98112616 46, XX, t(7;12)(p?22;?)/ 46, XX developmental delay, hypotonia p22       98112616 (cell line: BH0109) www.ecacc.or.uk Edit
104 1017320 46, X, t(X;7)(q21;p22) secondary amenorrhea, phenotypically normal p22   D7S544E/ D7S472   1017320, 831158, 1663489, 8425221, 10377420 GM1696 (GM01696), case 50 [10377420] fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 1696RAG 2-2, 1696RAG 12-3: www.uni-marburg.de/h umgen; molecular data unpublished Edit
105 738728_17524 46, XX, der(7)t(7;9)(p2203;p2100) pat phenotype not given p22       738728 17524 monosomy 7p22-pter; father had balanced t(7;9) Edit
106 738728_1062 46, XX, t(6;7)(q11;p2205) mat spontaneous abortion p22       738728 1062 mother had balanced t(6;7) Edit
107 3479040_BDI41205 46, XX, der(7)t(3;7)(p14;p22) mat phenotype not given p22       3479040 BDI I41205 monosomy of 7p22-pter; amniocentesis was performed because mother was a translocation carrier Edit
108 8112744 46, XY, der(8)t(7;8)(p22;q12) phenotype not given p22       8112744     Edit
109 1171079 46, XX, t(7;13)(p22;q14) four spontaneous abortions p22       1171079, 511145     Edit
110 4025390 46, XY, der(7)t(7;16)(p22;p13) pat chondroplasia punctata, microcornea, shallow orbits, thin lips, submucous cleft palate, abnormal ears, short neck, excess skin on the abdomen, clinodactyly of II and V fingers, vertebral hypoplasia, absence of the gallbladder p22       4025390 baby boy A monosomy of 7p22-pter; father had balanced t(7;16) Edit
111 1928105_9 46, XX, t(7;16)(p22;q24) de novo volvulus obstruction of duodenum, patent ductus arteriosus, abnormal carotid artery origin, absent lung lobulation, annular pancreas, died at 5 days of age p22       1928105 9th case in Table 3   Edit
112 NIGMS_GM10393 46, XY, add(7)(p22). ish der(7)t(X;7)(p21;p22)(STS+, wcpX+, D7S589+). rev ish enh(Xpter->Xp21) phenotype not given p22       GM10393 monosomy of 7p22-pter; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
113 14999294_43_1 67 <3n>, XXX, +X, -1, -2, -3, del(6)(q15q23), -7, del(7)(p13p22), +10, -12, -17, +18, -19, +der(?)t(?;1)(?;q2?1), +r acute lymphoblastic leukemia p22 p13     14999294 43 Mitelman Database, Reference No. 10554 Edit
114 14999294_46 46, X, t(X;12)(q24;p13), inv(2)(p13q37)/ 46, idem, t(9;19)(q34;q13.1)/ 46, idem, der(7)t(1;7)(q23-25;p15~22), t(8;10)(q24.1;q22), t(9;19)(q34;q13.1) acute lymphoblastic leukemia p22-15       14999294 46 Mitelman Database, Reference No. 10554 Edit
115 14999294_51 46, XX, add(7)(p22), del(9)(p21p24) acute lymphoblastic leukemia p22       14999294 51 Mitelman Database, Reference No. 10554 Edit
116 14999294_52 48, XY, der(2)t(2;12)(q33;q13), add(7)(p?22), del(8)(p21), +10, -12, -15, add(17)(p11.2), +21, +2mar acute lymphoblastic leukemia p22       14999294 52 Mitelman Database, Reference No. 10554 Edit
117 11078497_3_1 45, XX, del(1)(q25), der(7;7)t(7;7)(q11;p22)t(7;15)(q32;q22), -11, -12, del(13)(q12q22), add(14)(p11), -15, -22, +r, +2mar acute lymphoblastic leukemia p22 q11.2     11078497, 14999294 3 [11078497], 73 [14999294] Mitelman Database, Reference No. 8944 Edit
118 14734224_1 46, XY, der(7)t(7;7)(p22;q31)del(7)(q32q33), r(7)(p22q22) [6]/ 45, XY, idem, der(2)t(2;22)(p24?;q11), add(8)(q24), -22 [7] splenic marginal zone lymphoma p22 q31     14734224 76-year-old man   Edit
119 14734224_3 46, XY, der(7)t(7;7)(p22;q31)del(7)(q32q33), r(7)(p22q22) [6]/ 45, idem, der(2)t(2;22)(p24?;q11), add(8)(q24), -22 [7] splenic marginal zone lymphoma p22 q22     14734224 76-year-old man   Edit
120 15066321_27 44-46, XY, -3, -5, r(7)(p22q36)x2, +8, del(11)(q23), -17, +2mar [cp15] .ish r(7)(wpc7+, wcp11+, 46O13+, D7S480-, D7S650-, D7S514-, D7S2227-, tel7q-) refractory anemia with excess of blasts p22 q36 RP11-46O13/ D7S480   15066321 27 material of two ring chromosomes belonged to chr. 7 and chr. 11, but centromeres of both rings belonged to chr. 7; region D7S480-D7S2227 was lost in both rings and translocated to unknown chromosome der(?)t(?;11;7); telomeric probe was found in der(?)t(?;11;7) and a marker chromosome; Mitelman Database, Reference No. 10594 Edit
121 9552025_94 50, XY, +2, t(7;8)(p22;q24.1), +8, +10, +19 acute lymphoblastic leukemia p22       9552025 94 Mitelman Database, Reference No. 7566 Edit
122 MCN_19820001-058 46, XY, t(7;8)(10;11)(p22;q24.1)(q26;q23) de novo hypogonadism/d elayed puberty, long/large ear, mental retardation, hypothyroidism/small/a bsent thyroid, behaviour disorder/hyperactivity/p sychosis, short stature - postnatal, seizures p22       MCN ID: 19820001-058 www.mcndb.org Edit
123 MCN_19840002-035 46, XX, t(5;7)(q13;p22) mental retardation, dislocated hip, generalised obesity p22       MCN ID: 19840002-035 www.mcndb.org Edit
124 MCN_19860001-059 46, X, t(X;7)(q22;p22) mental retardation, primary amenorrhoa p22       MCN ID: 19860001-059 www.mcndb.org Edit
125 MCN_19990002-133 46, XY, t(1;5;7)(p32;q15;p22) facies significantly abnormal, Shunt VSD/ASD/PDA, broad/bifid thumb, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, Syndactyly (other than minimal 2nd and 3rd toes), micrognathia/a gnathia total/retrognathia p22       MCN ID: 19990002-133 www.mcndb.org Edit
126 MCN_19970064-224 46, XY, t(5;7)(q12;p22) mental retardation, paresis of ocular muscles/squint p22       MCN ID: 19970064-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
127 MCN_20000007-227 46, XX, der(4)t(4;7)(p16.3;p22) de novo mental retardation, cleft hard palate, shunt VSD/ASD/PDA, overlapping toes, small for gestational age (IUGR), low set ears p22       MCN ID: 20000007-227 trisomy of 7p22-pter; www.mcndb.org Edit
128 MCN_19920002-008 46, XY, t(5;13)(q11.2;q32.1), t(7;8)(p22;q21) macrocephaly, mental retardation, broad nasal bridge, abnormal cardiovascular structure/function p22       MCN ID: 19920002-008 www.mcndb.org Edit
129 MCN_19970081-224 46, XX, t(1;7)(p32;p22) mental retardation p22       MCN ID: 19970081-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
130 MCN_19940001-159 46, XY, t(1;5;7;12) arachnodactyly p22       MCN ID: 19940001-159 breakpoints: 5q12, 7p22, 1p36.1, 5q23, 12q14, 1p31; www.mcndb.org Edit
131 MCN_19970146-224 46, XY, t(6;7)(q13;p22) mental retardation, anteverted nostrils, hypertelorism, paresis of ocular muscles/squint p22       MCN ID: 19970146-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
132 MCN_19840001-086 46, XX, inv(7)(p14.3p22) broad nasal bridge, polydactyly - postaxial (ulnar)/type unspecified, polydactyly of feet - postaxial/type unspecified, syndactyly (other than minimal 2nd and 3rd toes) p22 p14.3     MCN ID: 19840001-086 www.mcndb.org Edit
133 11780207_7 46, XY, inv(7)(p22q11) phenotypically normal; wife had one spontaneous abortion in the first pregnancy p22 q11     11780207 case 7 karyotype of daughter (2nd pregnancy) was 45,XO/46,XX,i nv(7)(p22q11) Edit
134 12850374_1_4 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases p22 p15     12850374 1 Mitelman Database, Reference No. 10210 Edit
135 1591708 46, XX, del(5)(q31.1), der(7)t(6;7)(p21;p22)/ 46, XX low-grade endometrial stromal sarcoma p22       1591708, 7923082, 7497450, 10335941, 10432932, 12850374 3 [7923082, 10335941], 4 [7497450, 10432932, 12850374]   Edit
136 9826456_6 29-39, -X, -X, der(2)t(X;2)(q13;p23-24), -3, -5, add(6)(p22-23), del(6)(q21q27), del(8)(p12), der(8)dic(8;13)(p23;p13), -9, der(10)t(3;10)(q13;q21), -11, -11, add(12)(q13), -13, add(14)(q32), -15, add(15)(p11), ?add(17)(q11), -18, -19, add(20)(q13), add(21)(p11), add(22)(q13), +der(?)t(?;5)(?;q13), +der(?)t(?;11)(?;q13), +mar/ 37-39, -X, -X, der(2)t(X;2), -4, add(6), del(6), der(7)t(3;7)(p2?2;p22), dic(8;13), -11, -11, add(12)(p11), -13, ?del(13)(q21q34), -15, -16, -17, ?add(17), -18, -19, add(20), add(21), add(22), +der(?)t(?;4)(?;q21), +der(?)(?;11) uterine leiomyosarcoma p22       9826456 6 Mitelman Database, Reference No. 7996 Edit
137 9826456_8 65-80, X, -X, add(X)(q11), add(1)(q32)x2, der(1)t(1;3)(q25;p21), add(2)(q21), tas(2;4)(q37;p16), der(5)t(5;11)(q13;q13), der(7)t(7;8)(p22;q22), der(16)t(16;17)(q13;q21), del(18)(p11), add(19)(q13), add(22)(q13), der(22)t(9;22)(q12;q13), +der(?)t(?;12)(?;q13), +r, inc [primary tumor]
73-80, X, add(X)(p11), add(X)(q11.2), add(1)(q32)x2, del(1)(q11), t(2;10)(p10;q10), del(3)(p11p21), add(4)(q27), der(5)t(2;5)(q21;q11), add(6)(q27), der(8)t(5;8)(p13;p11)x2, add(8)(p21), add(13)(q34), der(17)t(11;17)(p11;p11)x2, add(19)(q13), der(22)t(9;22)(q12;q13) [cp12]/ 121-161, idemx2, -del(1)(q1), -del(18)(p11) [cp5] [uterus, at recurrence]
malignant mixed mesodermal tumor p22       9826456 8 Mitelman Database, Reference No. 7996 Edit
138 12810258_5516 46, XY, inv(7)(p22q21) meningioma, grade I p22 q21     12810258 T5516 Mitelman Database, Reference No. 10151 Edit
139 8161794_27 46, XX, add(9)(p13q32 or q33), add(11)(q23)/ 46, XX, del(7)(p15p22) acute lymphoblastic leukemia p22 p15     8161794 27   Edit
140 8547143 46, XX, t(7;9;22)(p22;q34;q11) [at diagnosis]
46, XX [at remission]
acute myeloblastic leukemia without maturation-M1 p22       8547143   Mitelman Database, Reference No. 6293 Edit
141 3456823 48, XY, +Y, t(7;22)(p22;q11), +8, t(9;22)(q34;q11), i(17)(q10) chronic myeloid leukemia p22       3456823   Mitelman Database, Reference No. 1590 Edit
142 9797774_8 44, X, -X, del(5)(q13q33), add(7)(p22), add(11)(q13), -16, add(17)(p13), -18, i(21)(q10), +2mar refractory anemia with excess of blasts in transformation p22       9797774 8 Mitelman Database, Reference No. 7722 Edit
143 10469450_83 46. XY, t(7;12)(p22;q15), der(10)t(10;14)(q24;q22), del(14)(q22) [10] pulmonary chondroid hamartoma p22       10469450 83 Mitelman Database, Reference No. 8134 Edit
144 14513052_6 +7p15-p22, +Xp21-p22 [by CGH] Burkitt's lymphoma p22 p15     14513052 6   Edit
145 12136233_6 46, XX, der(7)t(7;7)(p22;q36) de novo intrauterine growth retardation, left ventricular hypertrophy with significant septal hypertrophy of the heart, dysplasia of the right hip, significant muscular hypotonia, dysmorphic features, significantly wide-open fontanelle, speech delay, scoliosis, inspiration stridor because of partial tracheomalazia p22 q36     12136233 case 6 monosomy of 7q36-qter and trisomy of 7p22-pter Edit
146 Mark1979_8 45, X, del(X)(q24), del(1)(p11), +del(1)(q21), del(2)(q22), del(3)(q21-22), del(6)(p11), del(6)(q15), der(7)t(7;9)(p22;q13), der(8)t(8;?10)(p23;q21), del(9)(q13), -10, del(10)(q21), der(11)t(?2;11)(q22;q23), -13, del(14)(q24), del(15)(q22), del(16)(q22), +17, -19 histiocytic diffuse lymphoma p22       8 Mark et al., 1979, Cancer Genet Cytogenet 1: 39-56; Mitelman Database, Reference No. 556 Edit
147 2265404_57 46, XX, t(7;13)(p22;q12) [100%] adenocarcinoma of the thyroid p22       2265404 57 Mitelman Database, Reference No. 3637 Edit
148 10640979_4 40, X, der(Y)t(Y;1)(q21;q10), -1, -10, -14, -15, -18, -22 [2]/ 40, idem, tas(7;20)(p22;q13) [20] meningioma of the brain p22       10640979 4 Mitelman Database, Reference No. 8428 Edit
149 10640979_36_4 46, XY, der(1)inv(1)(p21p?36.1)inv(1)(p?36.1p31), t(6;7)(p?23;q?23), del(7)(p12p12) [cp4]/ 46, Y, t(X;17)(q13;q21), t(2;6)(p21;q13), del(7)(q34), inv(7)(p22q11.2), t(15;17)(q10;q10), t(18;19)(q11.2;q13.3) [cp3] meningioma of the brain p22 q11.2     10640979 36 Mitelman Database, Reference No. 8428 Edit
150 2278958_40_2 97, XXXX, +X, -6, del(7)(q22q32), inv(9)x2, -10, der(13)t(?8;13)(?q13;q34), -14, add(17), +18, +add(18), add(19), +21, +21, +r, +2mar/ 99, idem, +add(7)(p22), del(7)(q3?4)x2, +del(10)(q22q24) chronic lymphocytic leukemia p22       2278958 40 Mitelman Database, Reference No. 3294 Edit
151 8464228_16 46, X, del(X)(q22q23), -4, add(7)(p22), del(15)(q11q21), add(20)(q13) Acute myeloblastic leukemia without maturation - M1 p22       8464228 16 Mitelman Database, Reference No. 4857 Edit
152 1377005_2 80-96, XY?, add(7)(p22), add(10)(q24), dmin, inc prostate cancer p22       1377005 2 Mitelman Database, Reference No. 4067 Edit
153 1756498 46, XX, inv(16)(p13q22) [100]/ 46, idem, t(7;22)(p22;q13) [5]/ 46, XX [5] acute myelomonocytic leukemia - M4 p22       1756498 present case (case 23) Mitelman Database, Reference No. 4092 Edit
154 3478133_2601 46, XY, t(2;7)(p21;p22) acute monoblastic leukemia - M5b p22       3478133, 3419390 2601 Mitelman Database, Reference No. 2099 Edit
155 Cantagrel_ESHG2003 46, XX, t(2;7)(q35;p22) de novo hydrocephaly [detected by US], partial syndactyly of digits and toes, polymicrogyria, nodular heterotopia p22       33 week-old fetus Cantagrel et al., ESHG 2003, P292 (ASHG 2004, Program #839) Edit
156 1002161 46, XY, del(7)(p15p22) de novo craniosynostosis, turricephaly, hypotelorism, optic atrophy, low-set ears, stenotic auditory canals, bifid uvula, submucous cleft, transverse creases, severe developmental retardation p22 p15     1002161, 711238, 539602, 7116680, 3874588, 4043965, 1519644, 7521123, 12548740 5 in Table 1 [1002161, 539602], case 21 [7521123], case 13 [12548740]   Edit
157 15523614_1 45, XY, -7 [3]/ 46, XY, r(7)(p22q36) [44]/ 69, XY?, r(7), r(7) [2]/ 69, XY?, duplicated ring [2] severe IUGR, growth retardation, severe psychomotor and mental retardation, speech delay, microcephaly, seizures, multiple congenital melanocytic nevi, dysmorphic features, adducted thumbs, clinodactyly, limited elbow mobility, unable to walk at age 14 p22 q36     15523614     Edit
158 15325089_24 46, XX, inv(16)(p13q22)/ 46, idem, der(7)t(7;11)(p22;q21) [revised based on CGH] acute myelomonocytic leukemia with eosinophilia - M4Eo p22       15325089 24 Mitelman Database, Reference No. 10755 Edit
159 2981607_8 38, XX, -4, add(4)(q?), der(6)add(6)(p24)t(6;15)(q13;q14), der(7)t(7;9)(p22;q34)add(7)(q33), -8, der(9)ins(9;13)(p21;q13q34)del(9)(p21), der(11)t(8;11)(q12;p13),- 13, -14, -14, -15, -17, der(17)i(17)(q10)t(4;17)(?;q25)ins(17;?)(q25; ?), -18, -20, der(21)t(18;21)(q11;p12), +mar Wilms tumor p22       2981607 8 Mitelman Database, Reference No. 1297 Edit
160 6091875_5 53, XY, +6, +der(7)t(3;7)(q13;p22), +8, +9, +12, +13, +17 [6%]/ 54, idem, +18 [12%]/ 55, idem, +dup(1)(q2?q3?), +18 [44%]/ 55, idem, +inv dup(1)(q21q31.3), +18 [34%] Wilms tumor p22       6091875 5 Mitelman Database, Reference No. 1287 Edit
161 9559347 46, XX, t(7;12)(p22;q22) Wilms tumor p22       9559347     Edit
162 12550766_65_1 47, XY, +1, der(1;16)(q10;p10), add(7)(p22), +12 [18] /48, idem, +7 [3]/ 46, XY [2] [sample 1]
46-48, XY, +1, der(1;16), +add(7)(p22), +12, add(19)(p13) [3]/ 47, XY, +1, der(1;16), del(3)(q11), +add(7), +12, add(18)(q23) [cp3]/ 44-47, XY, +1, der(1;16), del(3)(p11), der(7)t(3;7)(p2?1;p22)ins(7;?)(p22;?), +12, add(18)(q21) [5]/ 46, XY, del(5)(q31), add(7)(q32) [4]/ 46, XY [4] [sample 2]
Wilms tumor p22 q32     12550766 65 Mitelman Database, Reference No. 9917 Edit
163 12550766_65_2 47, XY, +1, der(1;16)(q10;p10), add(7)(p22), +12 [18] /48, idem, +7 [3]/ 46, XY [2] [sample 1]
46-48, XY, +1, der(1;16), +add(7)(p22), +12, add(19)(p13) [3]/ 47, XY, +1, der(1;16), del(3)(q11), +add(7), +12, add(18)(q23) [cp3]/ 44-47, XY, +1, der(1;16), del(3)(p11), der(7)t(3;7)(p2?1;p22)ins(7;?)(p22;?), +12, add(18)(q21) [5]/ 46, XY, del(5)(q31), add(7)(q32) [4]/ 46, XY [4] [sample 2]
Wilms tumor p22       12550766 65 Mitelman Database, Reference No. 9917 Edit
164 12606126_1_2 51, XX, +6, +dic r(7;7)(q22q21.2;p22q21.2), +13, +18, +18 [7] /66, XXX, -1, -4, +6, dic r(7;7), -9, -10, -11, +13, -14, -16, +18, +18, -22 [3]/ 46, XX [10] Wilms tumor p22 q21.1     12606126 1 Mitelman Database, Reference No. 9965 Edit
165 12606126_42 70-71, XY, add(1)(p21), der(1;5)(q21;q10), dup(1)(q21q31), add(2)(q27), del(2)(q31), inv(3)(q?23q?27), del(4)(p11p15), ?del(6)(p12), add(7)(p22), +der(8)t(1;8)(q21;p23), del(9)(q22), add(10)(p11), ?t(10;19)(p11;q13), -11, +12, t(12;17)(q13;q25), +?del(13)(q12q22), -14, -15, -16, der(17)t(17;17)(p11;q11)t(12;17)(q13;q25), del(18)(q21), +mar Wilms tumor p22     12606126 42 Mitelman Database, Reference No. 9965 Edit
166 2207332_25 46, XY, del(6)(q21q23), add(7)(p22) early pre-B-cell acute lymphoblastic leukemia p22       2207332 25 Mitelman Database, Reference No. 3651 Edit
167 2207332_38 46, XX, add(7)(p22), t(10;11)(p14-15;q22-23), del(18)(q12)/ 47, idem, +del(6)(q15q25) T-cell acute lymphoblastic leukemia p22       2207332 38 Mitelman Database, Reference No. 3651 Edit
168 648176_father 46, XY, inv(7)(p22q32) phenotypically normal p22 q32     648176 father (II-4, Family G111WH) father of 648176_proposita; siblings (II-2, II-3) had same inversion Edit
169 1321916_29_1 41, Y, t(X;1)(p11;q21), i(1)(q10), der(3)t(3;13)(p12;q12), -4, -5, inv(7)(p22q11), -9, -10, -11, -13, add(16)(q11), +17, -18, +20/ 71-76, Y, t(X;1)(p11;q21)x2, +1, +2, t(3;13), -4, -5, +7, inv(7)x2, +8, add(8)(p11)x2, -9, -10, +12, -13, +16, add(16)x2, +17, -18, +19, +20, +21, +22, +2mar renal adenocarcinoma p22 q11     1321916 29 Mitelman Database, Reference No. 4577 Edit
170 1321916_39_1 50, X, -Y, +7, +7, +16, +17, +20/ 50, idem, der(7)t(3;7)(q21;p22)/ 50, idem, der(17)t(3;17)(q21;p13)/ 50, idem, der(19)t(3;19)(q21;q13) renal adenocarcinoma p22       1321916 39 Mitelman Database, Reference No. 4577 Edit
171 10572083_60_2 46, XX, t(12;21)(q12;q21)/ 46, XX, dup(1)(q21q42), r(7)(p22q31), add(13)(q34), der(21)t(7;21)(q32;q22) acute myeloid leukemia p22 q31     10572083 60 Mitelman Database, Reference No. 8407 Edit
172 2910365_26 46, XY, add(7)(p22)/ 45, idem, dic(9;12)(p1?;p11) acute lymphoblastic leukemia p22       2910365 26 Mitelman Database, Reference No.2766 Edit
173 2910365_41 46, XY, add(1)(q32), -5, add(7)(p22), -20, +2mar acute lymphoblastic leukemia p22       2910365 41 Mitelman Database, Reference No.2766 Edit
174 2910365_61 55, XY, +X, +Y, +4, der(7)t(4;7)(p11;p22), +9, +10, +14, +18, +21, +21 acute lymphoblastic leukemia p22       2910365 61 Mitelman Database, Reference No.2766 Edit
175 2910365_79 46, XX, t(6;12)(p21;p13), del(7)(p13p22) acute lymphoblastic leukemia p22 p13     2910365 79 Mitelman Database, Reference No.2766 Edit
176 2910365_84 46, XX, t(7;12)(p22;q13) acute lymphoblastic leukemia p22       2910365 84 Mitelman Database, Reference No.2766 Edit
177 123589_4_younger 47, XY, +der(21)t(7;21)(p22;q22) mat mental retardation, developmental delay, short stature, umbilical hernia, right inguinal hernia, right testis undescended? p22       123589, 2363431, 10494083 case 4 (III-3, younder sib) [123589], case 46 [10494083] trisomy of 7p22-pter; sibling of 123589_4_older; mother and sister carried balanced t(7;21) Edit
178 15198354_6419 47, XY, del(6)(q15q25)x2], add(7)(p22) [6], -12 [8], t(14;18)(q32;q21) [9], +3mar [2-7] [cp9]/ 46, XY [11] follicular lymphoma p22       15198354 6419 Mitelman Database, Reference No.10625 Edit
179 15198354_9180 51, XX, +X, add(1)(p36.3), +3, t(7;7)(p22;q32), +11, ins(12;?)(q13;?), +13, +21 [10]/ 51, idem, der(3)t(1;3)(q21;q27) [4] diffuse large B-cell lymphoma p22 q32     15198354 9180 Mitelman Database, Reference No.10625 Edit
180 11293906_1_1 42-46, XY, del(1)(q32), -7, add(7)(p22), add(12)(p12), add(15)(q26) [cp11] B-prolymphocytic leukemia p22       11293906 1 Mitelman Database, Reference No.9077 Edit
181 11293906_9 43-45, XX, del(3)(p13), +5, add(7)(p22), add(8)(p11.2), -10, -17, add(17)(p13), add(18)(q23), add(19)(p13.4), +1-2mar [cp5]/ 46, XX [30] B-prolymphocytic leukemia p22     11293906 9 Mitelman Database, Reference No.9077 Edit
182 11293906_20 44, XY, -3, t(3;16)(q23;q24), add(7)(p22), i(8)(q10), add(9)(p22), -10, t(11;14)(q13;q32), add(13)(q22), -17, add(19)(p13.3), add(21)(p13), -22, +2mar/43-45, idem, +2mar [18]/ 43-45, XY, idem, +2mar [cp2] B-prolymphocytic leukemia p22     11293906 20 Mitelman Database, Reference No.9077 Edit
183 11392884_8 46, XY, add(7)(p22), add(21)(q22) precursor B-cell ymphoblastic lymphoma p22     11392884 8 Mitelman Database, Reference No.9170 Edit
184 11488062_2_1 37-38, XX, add(3)(p25), del(6)(q21-25), -7, add(7)(p22), -8, i(8)(q10), -9, -10, add(11)(p15), i(11)(q10), -12, -13, -15, -17, add(19)(p13) [cp12]/ 46, XX [3] T-cell granular lymphocytic leukemia p22     11488062 2 Mitelman Database, Reference No.9252 Edit
185 8282816_5 46, XX, t(7;11)(p22;q23) [26]/ 46, XX [5] acute myelomonocytic leukemia - M4 p22       8282816, 9160687 5 [8282816] , 2nd case in Table 2 [9160687] Mitelman Database, Reference No. 5297 Edit
186 9226151_31 59, XY, -X, -1, del(2)(q21q31), -4, del(5)(q12q15), -6, -7, der(7)t(1;7)(q21;p22), -8, t(8;22)(q24;q11), +9, -10, -13, -14, -16, -17, -18, -20, -22, +3mar [7]/ 46, XY [9] multiple myeloma p22     9226151 31 Mitelman Database, No. 7066 Edit
187 9226151_40 42, X, add(X)(q28), t(1;5)(p22;q33-35), +4, -6, add(7)(p22), -8, -10, +del(11)(q11), t(11;14)(q13;q32), -13, -17, -20, -22, -22, +2mar plasma cell leukemia p22     9226151 40 Mitelman Database, No. 7066 Edit
188 3459561_10 46, XX, del(12)(p11)/ 46, XX, t(7;12)(p22;q12) early pre-B cell acute lymphoblastic leukemia - L1 p22       3459561, 9373267 10 [3459561], 4 [9373267] Mitelman Database, No. 1634 & 7207 Edit
189 2758395_14 47, XY, add(7)(p22), +8 or +9, del(16)(q22)/4 8, idem, +mar acute myeloblastic leukemia - M2 p22     2758395 14 Mitelman Database, No. 2971 Edit
190 2380759_75_1 60, XXY, +Y, -1, -2, -3, -5, +6, -7, add(7)(p22), inv(9)(p11q13)c, -12, -13, -15, -16, -17, +18, -19, -20, +21, -22 acute lymphoblastic leukemia p22     2380759 75 Mitelman Database, No. 3618 Edit
191 3874588 46, XY, der(7)t(2;7)(q3?;p22) de novo craniosynostosis, scaphocephaly, trigonocephaly, upslanting palpebral fissures, low set & poorly lobulated ears, large mouth with thin upper lip, short neck, wide-set hypoplastic nipples, small penis, hypospadias, general hypotonia, abnormal fingers and feet, died at 2.5 years of age p22       3874588, 7521123 case27 [7521123] monosomy of 7p22-pter Edit
192 12946992_31 46, XY, t(1;21)(q31;q21), der(7)t(7;11)(p22;q23)dup(11)(q23q24), +11, dup(11)x2 acute myeloid leukemia p22       12946992 31 Mitelman Database, Reference No. 10456 Edit
193 11746988_30_1 47, XY, der(1)t(1;20)(p34;q?), der(2)del(2)(p1?12)t(2;17)(q11.2;?)t(7;17)(?; q31), der(7)ins(7;2)(p22;q37q11)del(7)(q22), der(11)t(11;11)(p?;q?), +der(11)del(11)(p12)del(11)(q13q23), der(17)t(17;20), +der(17), -20 refractory anemia with excess of blasts p22       11746988, 12946992 30 [11746988], 1 [12946992] Mitelman Database, Reference No. 9309 Edit
194 11979548_8_1 41, XY, der(5)del(5)(q11q13)t(5;17)(q15;q11.2), der(6)t(6;22)(p25;q13), -7, del(9)(q11), del(12)(p12p13), der(15)t(7;15)(p22;p1?3)t(7;7)(p15;q21), -16, -17, -18, ?del(20)(q13.1q13.2), dup(21)(q22q22), -22/ 42, idem, +13/ 42, idem, -der(6), +der(6)t(6;22)t(6;7)(q21;p22)t(7;7)(p15;q21), +13, -der(15), +der(15)t(6;15)(q21;p1?3) acute erythroleukemia - M6 p22 p15     11979548 8 Mitelman Database, Reference No. 9492 Edit
195 11979548_25_2 44, X, der(X)ins(X;12)(q11;q11q1?5), der(1)t(1;12)(p1?1;?), der(3)t(3;12)(q2?1;q1?5), -4, der(5)t(5;9)(q2?2;q3?2), der(6)t(6;11)(p22;q11)inv(6)(p22q11), der(7)t(1;7)(p1?3;p22)del(7)(q11), del(9)(q3?2), der(9)t(4;9) (p11;p11)del(9)(q12q2?2), der(?11)t(3;11)(?;q11), -12/ 44, idem, -der(6), +der(6)t(6;11)(p22;q11)/ 44, idem, +der(?3)t(1;3)(p1?2;p11)del(3)(q2?3), +6, -der(6), -der(7), +11, -der(?11), der(13;18)(q10;q10), +mar acute myeloid leukemia p22       11979548 25 Mitelman Database, Reference No. 9492 Edit
196 Barros_1986 46, XY, r(7)(p22q36) growth delay, mental retardation, dysarthric speech, microcephaly, ocular anomalies, skin lesions, bone anomalies, genital anomalies p22 q36     2395166, 8362903, 10982483 case 5 [8362903] Barros et al., 1986, Cincia e Cultura 38 supple:849 Edit
197 15949565_4_1 rev ish enh(7p22, 7q, 11q12, 19p, 19q13qter, 20p13, 20q13qter, ), dim(1p21, 3q13, 10q23) [CGH] sacral chordoma p22 p22     15949565 4   Edit
198 15381372 46, XX, t(7;9;22)(p22;q34;q11.2) [20] chronic myeloid leukemia p22       15381372   Mitelman Database, Reference No. 10771 Edit
199 10748292_21 44-46, XY, add(7)(p22), add(9)(q34), -11, -12, -16, -16, -17, +21, 4mar/ 46, XY phenotype not given p22       10748292 21   Edit
200 15390188_2 43-47, XY, add(3)(q27), t(9;16)(q22;p13), del(13)(q14q21), add(18)(q23), del(18)(q21) [cp7]/ 46, idem, +8 [cp2]/ 47, XY, +3, del(4)(q31), add(7)(p22), del(17)(p13) [cp2]/ 43-49, idem, +9, +mar [cp3]/ 46, XY [1] T-cell non-Hodgkin's lymphoma, unspecified p22       15390188 2 Mitelman Database, Reference No. 10778 Edit
201 15334543_12 4246, XY, del(2)(p23), del(3)(p13p23), t(4;9)(q25;p21), -5, del(6)(q14), add(7)(p22), add(7)(q36), del(11)(q13q23), t(13;20)(q12;q13), add(14)(q32), add(20)(q13), inc [15] therapy-related myelodysplastic syndrome p22 q36     15334543 12 Mitelman Database, Reference No.10745 Edit
202 15611930_30 52-54, complex karyotype

rev ish enh(10q22, 11q14q21, 19q13.2), dim(5p15.2p15.3, 7p22, 20p12, 20q13) [detected by CGH]
refractory anemia p22 p22     15611930 30   Edit
203 15588849_12_2 57-60, X, der(X)t(X;15)(p11;q13), -Y, add(1)(q11), der(1;3)(q10;p10), +der(1)t(1;?6)(p22;q21), add(2)(p21), -3, del(3)(q21), i(3)(q10), -4, -4, der(4;14)(q10;q10), -5, -6, del(6)(q21), add(7)(q32), del(7)(q22), +der(7)t(5;7)(q11;p22), add(8)(p11), -9, -10, der(11)add(11)(q13)hsr(11)(q13), add(12)(q13), -13, -14, -14, add(14)(p11), -15, -15, add(16)(q2?), del(16)(q22), -18, add(18)(q21), -19, -21, -21, -21, -22, -22, inc [primary tumor]
55-62, X, der(X)t(X;15), -Y, add(1), der(1;3), +der(1)t(1;?6), +add(2), -3, del(3), i(3)(q10), -4, der(4;14), -5, -6, del(6), add(7), +der(7)t(5;7), add(8), -9, -10, add(12), -13, -14, -14, -15, -15, add(16), del(16), -18, add(18), inc [cp2]
squamous cell carcinoma of the tonsil p22 q32     15588849 12 Mitelman Database, Reference No. 10815 Edit
204 15593324_79 44-50, XX, add(7)(p22) [11], -22 [5], +r [18], +1-7mar [10], 1-4dmin [4] [cp18]/ 46, XX [2] atypical lipomatous tumor p22       15593324 79 Mitelman Database, Reference No. 10827 Edit
205 15264281_1_patient 46, XX. ish der(7)inv(7)(p22q36.3)(D7S427-) mat [assumed to be equivalent to rec(2)dup(7p)inv(7)(p22q36.3)] trigonocephaly, microphthalmia, upward slanting palpebral fissures, hypotelorism, midface hypoplasia, depressed nasal bridge, small nose with depressed tip, absent philtrum, bilateral cleft lip, hypoplastic thorax, protruding abdomen, megacolon, uterus bicornis unicollis, hypoplastic pelvis, profound seizures; died at 2 months of age p22 q36.3     15264281 patient 1 (1-00898) monosomy of 7q36.3-qter (deletion of 3.6 Mb) and trisomy of 7p22-pter (duplications of 0.3-5.8 Mb) Edit
206 15264281_1_mother 46, XX. ish inv(7)(p22q36.3)(D7S427 st, yac965c12/D7S550 mv, yac855a6/D7S481 st) phenotypically normal p22 q36.3   D7S550/ D7S427 15264281 mother of patint 1   Edit
207 15264281_2_patient 46, XY. ish der(4)t(4;7)(p16.3;p22)(D4F26-, D4S96-, D4S180/D4S412-) pat severe developmental delay, severe failure to thrive, high sloping forehead, small triangular face, hypertelorism, downward slanting palpebral fissures, epicanthal folds, iris heterochromia, small nose, microretrognathia, large ears, pit of the left ear helix, muscular hypotonia p22       15264281 patient 2 trisomy of 7p22-pter Edit
208 15264281_2_father 46, XY. ish t(4;7)(p16.3;p22)(CTB-164D18+, D4F26-, D4S96-, D4S180/D4S412-; D4F26+, D4S96+, D4S180/D4S412+, CTB-164D18-, D7S481+, D7S550+, CTB-3K23+) phenotypically normal p22   CTB-164D18/ D7S481   15264281 father of patient 2   Edit
209 15039973_DD8208944 46, XY, t(7;11)(p22;q23) pat reproductive difficulties p22       15039973 DD8208944   Edit
210 15039973_DD8103115 46, XY, der(7)t(7;20)(p22;p11) mat abnormal phenotype p22       15039973 DD8103115 monosomy of 7p22-pter Edit
211 Amouri_ESHG2005_1 46, XX, -7, -8 [bone marrow]
46, XX, r(7)(p22q36) [80%]/ 46, XX, R(7) [1]/ 45, XX, -7 [1]/ 46, XX [2] [lymphocytes]
chronic myelomonocytic leukemia, growth & developmental delay, skin lesion p22 q36     5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit
212 9520444_20_3 41-48, XY, -5, -7, der(7;12)(p22;q13), add(11)(q23), -12, der(12;13)(q10;q10), -14, -15, add(17)(p11.2), -18, +2-3mar preleukemic myelodysplastic syndrome, acute myeloid leukemia p22       9520444, 16213364 20   Edit
213 16179374_16 46, X?, t(1;7)(q21;p22), del(11)(q22q23), del(13)(q12q14) chronic lymphocytic leukemia p22       16179374 16 Mitelman Database, Reference No. 11298 Edit
214 16364762_41 46, XX, t(1;7)(q25;p22) [6]/ 46, XX, t(4;17)(q11;q25) [2] squamous cell carcinoma of the oral cavity - oropharynx p22       16364762 41 Mitelman Database, Reference No. 11284 Edit
215 11807981_1_1 45, X, -Y, -4, der(7)add(7)(p22)add(7)(q32), i(7)(q10), der(8)t(1;8)(q21;p23), -22, +2mar [9]/ 46, idem, +i(7)(q10), del(11)(q14) [1] (polycythemia vera, Budd-Chiari syndrome --> secondary liver failure --> liver transplantation 6 ys earlier -->) hepatosplenic gamma/delta T-cell lymphoma p22 q32     11807981 1 Mitelman Database, Reference No. 9377 Edit
216 12759629_91_2 47, XX, del(7)(q22q36), der(7)t(1;7)(q23;p22), der(11)t(11;11)(p14;q13), +21c [3]/ 47, idem, add(3)(q23), add(9)(p22), add(17)(q25) [11] therapy-related acute megakaryoblastic leukemia - M7 p22       12759629 91 Mitelman Database, Reference No. 10985 Edit
217 16737917 47, XX, r(7)(p22q36). ish(wcp7+, D7Z1+, EGFR+, D7S486x5), +8 [15]/ 46, XY [8] hepatosplenic T-cell lymphoma p22 q36     16737917   ring chromosome had five copies of D7S486 at 7q31 in the majority of cells Edit
218 6982670 46, XX, der(7)t(7;13)(p22;q14) mat mental and developmental retardation, hyperactive, no speech or walk at 2 years of age, bilateral nasal inferior coloboma of the iris, bilateral coloboma of both optic nerves, flattered nose, long philtrum, hypertelorism, bilateral epicanthus p22       6982670 proposita monosomy of 7p22-pter; mother, maternal grandmother, aunt and uncle had balanced t(7;13) Edit
219 12161591_17 46, XX, der(9). ish der(9)t(7;9)(p22;p24) de novo mental retardation p22       12161591 patient 12 trisoomy of 7p22-pter Edit
220 6711563 46,XX or XY, der(7)t(7;15)(p22;q23) mental retardation (8/8), growth retardation (6/8), microcephaly (5/8), facial asymmetry (7/7), prominent nose (7/8), high palate (7/7), micrognathia (4/6), scoliosis (7/7), cryptorchidism (only males), hyperextensible thumbs (5/5), congenital heart disease (4/8) p22       6711563 nine family members monosomy of 7p22-pter Edit
221 2596503 46, XX, der(7)t(7;12)(p22;q11), i(12p) [60.2%]/ 46, XX, der(7)t(7;12)(q36;q11), i(12p) [37.9%]/ 46, XX, der(11)t(11;12)(q25;q11), i(12p) [1.4%]/ 46, XX, i(12p) [0.5%] de novo psychomotor retardation, generalized hypotonia, coarse face, low-set ears, high forehead, prominent & broad cheeks, depressed nasal bridge, abnormal mouth, high-arched palate, hypoplastic tooth enamel, short neck, diastasis recti, coccygeal fovea, clinodactyly of 5th fingers, polysyndactyly of hallux, seizures p22 q36     2596503 proposita   Edit
222 7120324 46, XX, t(7;22)(p22;q13) phenotypically normal; had a child with 47,XX,+del(22), and one with 46,XX,der(7)t(p22;q13) p22       7120324 mother J Med Genet. 1982 Aug;19(4):313 Edit
223 7120324_mother 46, XX, t(7;22)(p22;q13) phenotypically normal; had a child with 47,XX,+del(22), and one with 46,XX,der(7)t(p22;q13) p22       7120324 mother mother of 7120324_1 ( case 1) & case 2 with 47,XX,+del(22) Edit
224 7120324_1 46, XX, +22(q13->qtter) mat [46, XX, der(7)t(7;22)(p22;q13), assumed] unilateral cleft lip with cleft palate, low-set ears, microcephaly simian crease, rocker bottom feet; died 2 days after birth; truncus arteriosus with ventricular & atrial septal defects [autopsy] p22       7120324 case 1 monosomy of 7p22-pter?; aborted fetus of 7120324_mother Edit
225 6335372 46, XX, der(7)t(2;7)(q32.1;p22) mat microcephaly, prominent forehead, hypertelorism, depressed nasal bridge, upturned nostrils; died a few hours after birth p22       6335372   monosomy of 7p22-pter Edit
226 3976719_1 46, XX der(7)t(7;9)(p22;p13) mat developmental & growth retardation, antimongoloid slant of palpebral fissures, asymmetric anteverted & anteflexed angulated ears, large nose, down-turned corners of mouth, high palate, camptodactyly of II & III fingers, bilateral clinodactyly of 5th fingers, umbilical hernia, various infectious diseases during early infancy p22       3976719 patient 1 (S.V.M., proposita) sister of 3976719_2; monosomy of 7p22-pter; mother (I.M.) and sister (S.C.M.) had balanced t(7;9) and ptosis Edit
227 3976719_2 46, XY der(7)t(7;9)(p22;p13) mat typical facial appearance of dup(9) p22       3976719 patient 1 (J.M.) younger brother of 3976719_1 Edit
228 2294436_12 46, XX, der(9)add(9)(p13)add(9)(q32-33), add(11)(q23)/ 46, XX, del(7)(p15p22) acute lymphoblastic leukemia - L1 p22 p15     2294436 12 Mitelman Database, Reference No. 4022 Edit
229 16397222_2 46, X, -X, del(2)(q36), add(3)(q29), 6, del(6)(q21), add(7)(p22), der(14)t(1;14)(q25;q32), +mar [5] [G-banding]
47, X, der(X)t(X;16)(?;?), +2, add(2)(q11), ins(2;22)(q31;q11q13), der(3)ins(3;13) (p24;q?22q32)t(3;6)(q28;q22), der(6)t(3;6)(q28;q22), del(6)(p11), der(7)(7qter-> 7p15::6?::15?::3?::13?::15?::6?::X?::6?::3?), der(14)t(1;14)(q25;q32) [FISH]
endometrial stromal sarcoma p22 p15     16397222 case 2 Mitelman Database Reference No. 11323 Edit
230 15059141_34 46, XX, t(7;9;22)(p22;q34;q11.2) [19]/ 46, XX [1] chronic myeloid leukemia, variant Ph translocation p22       15059141 34 Mitelman Database Reference No. 10572 Edit
231 15059141_35 46, XX, t(7;9;22)(p22;q34;q11) [20] chronic myeloid leukemia, variant Ph translocation p22       15059141 35 Mitelman Database Reference No. 10572 Edit
232 17063086_52 46, XX, del(5)(q13q33), r(7)(p22q36) [5]/ 46, XX [4] T-cell acute lymphoblastic leukemia p22 q36     17063086 52 Mitelman Database, Reference No. 11644 Edit
233 17063086_76 46, XY, der(7)t(1;7)(q12;p22), ?del(16)(q23q24) [9] T-cell acute lymphoblastic leukemia p22       17063086 76 Mitelman Database, Reference No. 11644 Edit
234 18801060_3_1 46,XX,-1, add(4)(q21), -5, der(7)add(7)(p22)del(7)(q32), -11,+3mar 11 ⁄ 2092,XXXX, -1,-1, add(4)(q21)·2, -5, -5, der(7)add(7)(p22)del(7)(q32)x2, -11, -11, +6mar 1 ⁄ 2046,XX 8 ⁄ 20 myelodysplastic syndrome, refractory anemia with excess blasts p22       18801060 Patient 3   Edit
235 19401716_3 46,XY,inv(7)(p22q21.3)de novo split hand/foot malformation, arteriovenous malformation of the hand, PDD-NOS p22 q21.3   RP11-837N16 19401716, 7616545 Patient 3   Edit
236 23509645_1 fetal: 46,XX,r(7)(p22q36).ish r(7)(p22q36)(pVYS230A-,p VYS231A-)dn. arr 7p22.3(54,215-170,3 96)x1, 7q36.1q36.3(149,415,502-159,1 18,537)x1 [hg19] fetal holoprosencephaly, hypotelorism p22 q36.3     23509645   pregnancy terminated Edit
237 23871472_8036-1 4?,X?.arr 7p22 (52,899-?)x3 schizophrenia p22 p22     23871472 8036-1 ~3.26 Mb duplication Edit
238 22549442_19 46,XX,add(7)(p22)(p11),–17,a dd(19)(p12),–19,+ 21 Acute myeloid leukemia p22 p22     22549442     Edit
239 1623626_2 46, XX, ins(7)(p22.1p21.4q36.1) mat had three first trimester miscarriages and one second trimester intrauterine death p21.4 q36.1     1623626 proband mother, sister, maternal uncle and cousins have same insertion Edit
240 9792856_HM 46, XY [del(7)(p21.1p21.3), not visible] Saethre-Chotzen syndrome, craniosynostosis, ptosis, syndactyly, learning disabilities p21.3 p21.1 D7S2464/ D7S2557 D7S2551/ D7S2535 9792856 HM   Edit
241 12116251_8 46, XX, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, brachycepahly, plagiocephaly, hearing loss, brachydactyly, facial asymmetry, learning disabilities p21.3 p15.3     12116251 patient 8   Edit
242 12116251_9 46, XX, del(7)(p15.3p21.3) Saethre-Chotzen syndrome, brachycepahly, plagiocephaly, facial asymmetry, learning disabilities, heart defect, malpositioned anus p21.3 p15.3     12116251 patient 9   Edit
243 4043965 46, XY, del(7)(p15.3p21.3) craniosynostosis, brachycephaly, mental retardation, hypertelorism, left blepharoptosis, micrognathia, high arched palate, crytorchidism p21.3 p15.3     4043965, 1519644, 8411039, 7521123, 12548740 case 20 [7521123], case 16 [12548740]   Edit
244 1519644 46, XX, del(7)(p15.3p21.2-21.3) de novo boderline mental retardation, short stature, minor facial anomalies, several skeletal changes p21.3 - 21.2 p15.3     1519644, 7521123, 12548740 RC [1519644], case 9 [7521123], case 8 [12548740]   Edit
245 11829489_5 46, XY, inv(7)(p14p21) Russell-Silver syndrome p21.3 - 21.2 p14.1 D7S513/ D7S507 AC006023 11829489 patient 5   Edit
246 7888144 46, XX, dup(7)(p15.1p21.3) de novo discrete facial dysmorphism, borderline intelligence, clumsy motor development p21.3 p15.1     7888144, 10494083, 11562935 G.E. [7888144], case 31 [10494083]   Edit
247 11280950_mother_2 46, XX, ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) healthy mother; two of five pregnancies were miscarried, one infant died at 2 days of age with coarctation of the aorta, one son was healthy. The last offspring was a daughter with craniofacial dysmorphism and mental retardation p21.3 p12.2 D7S589/ AC002124   11280950 mother D7S589 is not in this database Edit
248 11280950_mother_1 46, XX, ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) healthy mother; two of five pregnancies were miscarried, one infant died at 2 days of age with coarctation of the aorta, one son was healthy. The last offspring was a daughter with craniofacial dysmorphism and mental retardation p21.3 q21.2 D7S589/ AC002124 CIT402G5/ D7S666 11280950 mother No accession number for CIT402G5 Edit
249 ECACC_94020205 46, XX, der(8)t(7;8)(p21.3;p23.1) mat phenotype abnormal p21.3       94020205 (cell line: DD1742) trisomy of 7p21.3-pter; www.ecacc.org.uk; data unpublished; sister (DD1676) has FG syndrome (uncertain) Edit
250 ECACC_97102401 46, XY, inv(7)(p12.2p21.3) pat phenotype abnormal; serum screened risk 1:212 p21.3 p12.2     97102401 (cell line: DD2997) www.ecacc.or.uk Edit
251 10521304_6 46, XX, der(9)t(7;9)(p21.3;p22.1) de novo trigonocephaly, dysmorphic facial features p21.3       10521304 patient 6 (Group 1) trisomy of 7p21.3-pter Edit
252 14513358_S2517D 46, XY [del(7)(p21.1p21.3), not visible] coronal synostosis, cutis aplasia, facial, hand, and foot anomalies, constriction band of left arm, developmental delay p21.3 p21.1 D7S513 D7S2551 14513358 S2517D heterozygous TWIST gene deletion (600 kb to 8.7 Mb) identified by real-time PCR-based gene dosage anaysis; maternal allele deletion confirmed by microsatellite genotyping Edit
253 14513358_F2519T 46, XX [del(7)(p21.1p21.3), not visible] Saethre-Chotzen syndrome, developmental delay p21.3 p21.1 D7S664 D7S2562 14513358 F2519T heterozygous TWIST gene deletion (5.5 Mb to 7.8 Mb) dentified by real-time PCR-based gene dosage anaysis; paternal allele deletion confirmed by microsatellite genotyping Edit
254 NIGMS_GM11440 46, X?, der(5)t(5;7)(p15.1;p21.3) phenotype not given p21.3   D7S513/ SHGC-34183   GM 11440 trisomy of 7p21.3-pter; CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clone; data unpublished Edit
255 11280950_patient 46, XX, der(2)ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) mat [inferred] mental retardation, long facies, hypertelorism, down-slanting palpebral fissures, prominent nasal bridge, large nose with columnella and nasal tip extending beyond hypoplastic ears, high narrow palate, micrognathia, hyperlaxity of elbows and interphalangeal joints, small dysplastic nails p21.3 p12.2     11280950 patient trisomy of 7p12.2-p21.3; daughter of 11280950_mother Edit
256 11391597_21 46, XX, t(7;22)(p22;q11), der(16)t(1;16)(q21;q13) Ewing sarcoma p21.3   ETV1   11391597 21 ETV1 fused to EWSR1 (22q12.2); Mitelman Database, Reference No. 9177 Edit
257 11406651 t(7;22)(p22;q12) Ewing sarcoma p21.3   ETV1   11391597   ETV1 fused to EWSR1 (22q12.2); Mitelman Database, Reference No.9140 Edit
258 7700648 46, XY, t(7;22)(p21;q12) Ewing sarcoma p21.3   ETV1   7700648   ETV1 fused to EWS (22q12); Mitelman Database, Reference No. 5861 Edit
259 Rooney_BSHG2005_2 46, XY, +1, der(1;7)(q10;p10) [5]/ 46, XY, +1, der(7)t(1;7)(q10;p10)del(7)(p11.1p21.3) [15] [at diagnosis]
46, XY, +1, der(7)t(1;7)(q10;p10)del(7)(p11.1p21.3) [after Cx, MDS]
46, XY, +1, der(7)t(1;7)(q10;p10)del(7)(p11.1p21.3) [16]/ 47, idem, +8 [4] [AML]
myelodysplastic syndrome --> acute myeloid leukemia p21.3 p11.1       monosomy of 7q; reported by Rooney et al. at British Human Genetics Conference 2005, Abstract #2.36 Edit
260 15039973_DD9305922 46, XY, der(8)t(7;8)(p21.3;p23.1) mat abnormal phenotype p21.3       15039973 DD9305922 trisomy of 7p21.3-pter Edit
261 15039973_DD9707244 47, XY, inv(7)(p12.2p21.3) pat phenotype not given; prenatal diagnosis was done p21.3 p12.2     15039973 DD9707244   Edit
262 15039973_DD9905387 46, XY, inv(7)(p15.2p21.3) mat abnormal phenotype p21.3 p15.2     15039973 DD9905387   Edit
263 14654949_41 46, XY, inv(7)(p15or22q11or22). ish inv(7)(p21q21.3) [15] T-cell acute lymphoblastic leukemia p21.3 p21     14654949 41   Edit
264 18255367_3 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21.3   RP11-737N20   18255367 proband   Edit
265 18255367_4 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21.3 p21.3 RP11-455K15   18255367 proband ~690 Kb deletion involving TWIST gene detected by microarray Edit
266 17937435_1 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p21.3   RP11-125A23/R P11-482M1   17937435 proband NXPH1 identified at bp Edit
267 19086034 46,XY,t(5;18)(q33.1;q12.1)de novo [del(7)(p21.3p21.3), dup(14)(q11.2q11.2), dup(17)(q21.31q21.31) CNV's detected by microarray] autism, psychomotor retardation, very minor dysmorphic features p21.3 p21.3     19086034, 15266626 MCN ID: 20040001-023 ~19Kb deletion, www.mcndb.org Edit
268 21480499_0100 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] autism, language problems, developmental delay, sensory problems, hyperactivity, large head circumference, intellectual disability p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0100, maternal cousin of 0101 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
269 21480499_0101 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] ASD, ADHD, depressive disorder, reading disability, dental misalignment, articulation and oral motor problems, awkward gait, overly acute hearing p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0101, maternal cousin of 0100 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
270 19597493_2102 arr 7p21.3(8,900,139-9,091,0 44)X3 de novo Tetralogy of Fallot p21.3 p21.3     19597493 2102 ~190Kb duplication, NCBI Build 36.1 Edit
271 19328872_7 46,XY.arr (7p21.3)x3 pat.arr (15q11.2)x1 pat complex congenital heart defect, hypoplastic right ventricle, atretic pulmonary valve p21.3 p21.3     19328872 case 7   Edit
272 ECACC_92112742 46, XX, der(7)ins(7;12)(p21.2;q22q15) pat abnormal phenotype p21.2       92112742 (cell line: DD1085) amniocytes; mother of ECACC_92121014 (DD1103); ecacc.org.uk; data unpublished Edit
273 9792856_SA 46, XY [del(7)(p21.1p21.2), not visible] Saethre-Chotzen syndrome, craniosynostosis, facial asymmetry, cleft palate, deviated nasal septum, ptosis, hypertelorism, brachdactyly, learning disabilities p21.2 p21.1 D7S507/ D7S488 D7S493/ D7S682 9792856 SA   Edit
274 8411039 46, XX, del(7)(p15.3p21.2) de novo ptosis, dacryostenosis, pectus excavatum, short hands, normal to mildly delayed development, no mental retardation, no craniosynostosis p21.2 p15.3     8411039, 12548740 case 21 [12548740]   Edit
275 3487273 46, XY, del(7)(p15.2p21.2) de novo craniosynostosis, psychomotor developmental delay, camprodactyly, syndactyly, hypoplastic external genitalia p21.2 p15.2     3487273, 1519644, 8411039, 7521123, 12548740 case 7 [12548740], case 19 [7521123]   Edit
276 8418642 46, XY, del(7)(p15.1p21.2) de novo multiple congential anomalies, respiratory distress, craniosynostosis, median bony protrusion on the forehead, congenital stridor, seizures, high arched palate p21.2 p15.1     8418642, 7521123, 12548740 case 18 [7521123], case 11 [12548740]   Edit
277 8266989_proband 46, XY, t(2;7)(p23;p22) mat Saethre-Chotzen syndrome, turribrachycephaly, overlapping coronal and lambdoid sutures, open fontanelles, bifid uvula, moderate hearing loss, developmental delay p21.2   CTD-2110P21/ GDB:1318450   8266989, 7977380, 14513358 proband [8266989], M1389S [14513358], MCN ID: 19930014-999 breakpoint in a 10-kb region 260kb 3 Edit
278 7987323_2 46, XX, t(7;18)(p21.2;q23) mat craniosynostosis, brachycephaly, low-normal intelligence, Saethre-Chotzen syndrome p21.2   G49142/ RH99312   7987323, 9259286, 7783164 case2 [7987323], A:III-2 [7783164], MCN ID: 19950017-999 www.mcndb.org Edit
279 7987323_3 46, XX, t(5;7)(p15.3;p21.2) de novo hearing loss, craniosynostosis, brachycepahly, Saethre-Chotzen syndrome p21.2   G49142/ RH99312   7987323, 9259286, 7783164 case 3 [7987323], C:II-1 [7783164], MCN ID: 19950016-999 www.mcndb.org Edit
280 7987323_4 46, XY, t(2;7)(q21.1;p21.2) small ears with prominent crura, deviated nasal septum p21.2   D7S488/ D7S493   7987323, 9259286, 7783164 case 4 [7987323], family 2:II-2 [7987323] father of 7987323_4-daughter with classical Saethre-Chotzen Edit
281 8266988_1 46, XY, t(7;10)(p21.2;q21.2) pat Saethre-Chotzen syndrome p21.2   G49142/ RH99312   8266988, 9259286, 7987323 case 1 [7987323], MCN ID: 19930013-999 father (de novo) and daughter have same translocation and are similarly affected ; www.mcndb.org Edit
282 10494083 46, XY, der(21)t(7;21)(p21.2;q22.3) mat mental and physical retardation, larege anterior fontanel, brachycephaly, hypotonia, ocular hypertelorism, high narrow palate, small mandible p21.2       10494083, 12818527 propositus (case 42) trisomy of 7p21.2-pter; mothe had balanced t(7;21) Edit
283 7909651 46, XY, t(6;7)(q16.2;p15.3) de novo craniosynostosis, mild minor anomalies, mild developmental delay, fusion of the upper central incisors, high arched palate p21.2   D7S1683/ sts-Y10871   7909651, 7868123, 9215678, 12548740 case 20 [12548740] breakpoint lies at ~5 kb downstream of TWIST deleting 518 bp in sts-Y10871; molecular cytogenetic data is not consistent with karyotype Edit
284 9084937 46, XY, der(9)t(7;9)(p21.2;p23.5) de novo growth delay, psychomotor retardation, malformations and dysmorphic features, cryptorchid testes, hydronephrosis, bilateral choanal atresia p21.2       9084937, 10494083 case 41 [10494083] trisomy of 7p21.2-pter Edit
285 2363431 46, XY, dir dup(7)(p21.2p14.2) de novo moderate developmental retardation, unusual dermatoglyphics, highly arched palate, small penis p21.2 p14.2     2363431, 8839888, 9297445, 10494083, 11562935 Ref. 5 [8839888], case 6 [9297445], case 16 [10494083]   Edit
286 12706107 46, XX, t(1;7)(q41;p21) de novo Peters' anomaly, totally blind with no light perception p21.2   AC002088   12706107 propositus breakpoint at 7p21 was localized within intron 12 of HDAC9; propositus had three affected children from two husbands Edit
287 12818527 47, XY, +der(21)t(7;21)(p21;q21.3) mat infantile spasm, repeated upper respiratory tract infection and otitis, constipation, severe feeding problems, psychomotor development retardation, autistic, no speech at 12 y.o., muscular hypotonia, mild facial dysmorphism p21.2   D7S507/ D7S488   12818527   trisomy of 7p21-pter; mother and brother carry balanced t(7;21) Edit
288 12818528_2 46, XY, t(3;7)(q27;p21.2) de novo severe developmental delays and mental retardation, profound hearing loss, partial blindness with nystagmus, seizure disorder, several dysmorphic features, ptosis, facial asymmetry, gynecomastia p21.2       12818528, 16131774 case 2 [12818528], case 1 (GC) [16131774], MCN ID:20030004-999 www.mcndb.org Edit
289 ECACC_94070823 46, XY, t(7;11)(p21.2;q23.1) mat phenotype not given p21.2       94070823 (cell line: DD1975) fetus; mother has same karyotype and had three previous pregnancies resulting in miscarriage; www.ecacc.org.uk; data unpublished Edit
290 7987323_4-daughter 46, XX, t(2;7)(q21.1;p21.2) pat classical Saethre-Chotzen syndrome, skull asymmetry, brachycephaly (but no overt CRS), cleft palate, ususual ears, mild syndactyly of the hand, broad big toes with mid-line furrows in the nails p21.2       7987323, 7783164 daughter of case 4 [7987323], family 2:III-2 [7987323], MCN ID: 19950015-999 daughter of 7987323_4; www.mcndb.org Edit
291 ECACC_92121014 46, XX, der(7)ins(7;12)?(p21.2;q22q15) mat (TOP autopsy showed) post nuchal swelling, gastroschisis & talipes equinovarus p21.2       92121014 (cell line; DD1103) fetus of ECACC_92112742 (DD1085); www.ecacc.or.uk Edit
292 11303510 46, XY, der(8)ins(8;7)(p23.1;p21p13) de novo delayed closure of larger anterior fontanelle, mental retardation, cardiac septal defect, long face, low-set ears, long nose with broad nasal bridge, bushy eyebrows, mild ptosis of eyelid, convergent strabismus, hypertelorism, deep and short philtrum, thin upper lip, small mouth, high arched and narrow palate, bifid uvula, kyphoscoliosis, thin ribs p21.2 p13 D7S664/ D7S2557   11303510   trisomy of 7p21.1-p13 (including the TWIST, HOXA, GLI3) Edit
293 14513358_G1160D 46, XY [del(7)(p21.2p21.2), not visible] Saethre-Chotzen syndrome, developmental delay p21.2 p21.2     14513358 G1160D heterozygous TWIST gene deletion (>797 bp) identified by real-time PCR-based gene dosage anaysis; two markers flanking TWIST were homozygous Edit
294 14513358_S2518C 46, XY [del(7)(p21.1p21.2, not visible] Saethre-Chotzen syndrome, developmental delay p21.2 p21.1 D7S488 D7S654 14513358 S2518C heterozygous TWIST gene deletion (797 bp to 14.4 Mb) identified by rreal-time PCR-based gene dosage anaysis Edit
295 14513358_N1339D 46, XX, inv(7)(p21.3q34) Saethre-Chotzen syndrome p21.2 q34 CTD-2110P21/ GDB:1318450   14513358 N1339D breakpoint on 7p lies in a 10-kb region 260kb 3 Edit
296 NIGMS_GM00633_2 46, XY, t(7;10)(p21.2;q11.21)del(7)(p21.2p22.1) congenital malformations; severe retardation p21.2       GM00663 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; see 1132253_1 & _2 (fibroblast from same proband) Edit
297 MCN_19890001-002 46, XY, ins(6)(p21.33;q23.3), t(7;13) de novo mental retardation p21.2       MCN ID: 19890001-002 breakpoints: 13q21.32, 6p21.33, 7p21.2, 13q22.3, 6q23.3, 13q14.13; www.mcndb.org Edit
298 MCN_19920001-044 46, XY, del(7)(p21.2p15) de novo imperforate anus/anal stenosis, abnormal oesophagus/t racheo-oesophageal flatula, multiple vertebral malsegmentation/h emivertebrae, absent/abnormal radius p21.2 p15     MCN ID: 19920001-044 www.mcndb.org Edit
299 Gustavsson_ASHG2003 46, XX, t(7;9)(p21;p21) cleft palate, polydactyly, learning difficulties p21.2   HDAC9/ TWIST1$     Gustavsson et al., ASHG 2003, Program #853 Edit
300 Unpublished_25239 46, XX, inv(7)(p21.2;q22.1) autism, psychosis p21.2 q22.1 G248P8726D9 RP11-110G9 25239 updated Nov/07 Edit
301 9475103_1 46, XX, trp(7)(p21p22) de novo. ish trp(7)(p22p21)(wcp7+, c109A6+, D7S517+++, D7S513+++, D7Z1+) [der(7)(qter-> p22::p21.3-> p21.2::p15-> p22::p22->p ter)] growth and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p21.2 p22.3     9475103, 10494083 case 30 [10494083] triprication of p21.2-p22.3 Edit
302 9792856_CN 46, XX [del(7)(p21.2p21.2), not visible] Saethre-Chotzen syndrome p21.2 p21.2 rs2857551/ rs2522198 rs4647961/ rs2522207 9792856 CN daughter had same deletion; ~3kb deletion including TWIST gene Edit
303 1132253_2 46, XY, t(7;10)(p21.2;q11.21)del(7)(p21.2p22.1) congenital malformations, severe retardation p21.2       1132253, 2431619, 1663489, 7607696 GM00044 (GM44, GM0044) fibroblast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clones: 0044 RAG 1-15, 0044 RAG 9-40-5: www.uni-marburg.de/h umgen; molecular data unpublished; see NIGMS_GM00633_ 1 & _2 (lymphoblast from same proband) Edit
304 Stoler_2005 46, X? [del(7)(p21.2p21.2), not visible] Saethre Chotzen syndrome; ptosis, cleft palate, asymmetric face (esp., nose), small ears (no craniosynostosis, no brachy- or syndactyly, no hallux valgus) p21.2 p21.2 TWIST1$ TWIST1$ two cases microdeletion of 18 bp within TWIST1 (NM_000474) (case 1), and his father had dramatic unilateral ptosis, asymmetric nose, and hallux valgus; reported at Annual Clinical Genetics Meeting, 2005 (#125) Edit
305 15726498_2 46, XY, t(4;7;8;17)(4qter-> 4p15.2::17q25-> 17qter; 7qter-> 7p15::4p15.2-> 4pter; 8pter-> 8q12.2::7p21.2-> 7pter; 17pter-> 17q25::8q12.2-> 8qter) de novo [amniotic fluid] acampomelic campomelic dysplasia (CD), cleft palate, micrognathia, increased nuchal fold, prominent citerna magna, small mouth, posteriorly rotated ears, nail and digital abnormalities, skeletal anomalies, normal female external genitalia, ovaries devoid of oocytes, died of respiratory complications after 3 weeks p21.2 p15 RP11-764N24/ RP11-233O19   15726498 patient 2 Velagaleti et al., ASHG 2003, Program #807 & ASHG 2004, Program #946 Edit
306 16719278 46, XY. ish der(12)t(7;12) (p21.2;q24. 33)(SKY+, 7pTEL+, 12qTEL-) de novo hypotonia, moderate mental retardation, psychomotor developmental delay, cryptorchidism, inguinal hernia, hypertelorism, epicanthal folds, flat nasal bridge, microretrognathia, prominent square-shaped forehead, low-set ears; Dandy-Walker variant (brain MRI) p21.2       16719278   trisomy of 7p21.2-pter Edit
307 Shouten_ESHG2006 46, XX, del(7)(p15.3p21.2) mental retardation, growth retardation, dysmorphic features p21.2 p15.3       Schouten et al., ESHG, 2006, P0349 Edit
308 18568304 46,XY, der(9)t(7;9)(p21.2;p24.1).ishder(9)t(7;9)(wcp7+,9 pter-,7pter+)mat developmental delay, mental retardation, no speech, hypothyroidism, trigonocephaly with prominent forehead, hypertelorism, cleft palate, low-set ears, cryptorchidism, hypospadias, bilateral ptosis, bilateral coax valga deformity, right hip sublaxationlarge anterior fontanel, hypotonia, high frequency hearing loss, seizures, asthma, otitis media, enlarged aorta, seminoma p21.2       18568304 proband family history significant for birth defects and/or miscarriages Edit
309 22570644 4?,XY.arr (7p21.2p14.3)x1 de novo craniosynostosis, asymmetrical face, overlapping cranial sutures, hypertrichosis of forehead,low nasal bridge with anteverted nostrils, small palpebral fissures, hypertelorism with epicanthic folds, ptosis of the eyelids, low-set ears, underdeveloped helix, long smooth philtrum, high cleft palate, several limb anomalies, bilateral hypoplastic fifth fingers with clinodactyly, digital webbing, abnormal hand creases, short toes, long broad medially deviated halluces,hypoplastic scrotum, cryptorchidism, hypospadias, open foramen ovale, mild aortic insufficiency, apnea,abnormal sleep EEG, renal insufficiency, severe neurological deficits, died at 2 yrs. p21.2 p14.3     22570644   ~13Mb deletion; discussion of TWIST and HOXA as candidate genes Edit
310 12548740 46, XX, del(7)(p15.1p21.1) de novo bilateral anophthalmia, cryptophthalmos, temporal remnant eye tags, bilateral cleft lip, unilateral cleft palate, proboscis with absent nasal septum, choanal atresia, micrognathia, square stoma, bilateral external auditory canal atresia p21.1 p15.1     12548740     Edit
311 11280946_4_1 46, XY, der(1)t(1;2;7;18)(q31.3;q24.3;p21.1;p11.3), der(2)t(1;2;7;18), der(7)t(1;2;7;18)t(7;8)(q21.2;q21.31), der(18)t(1;2;7;18)t(7;18) Saethre-Chotzen syndrome p21.1       11280946 patient 4   Edit
312 16470734 46, XY, t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), del(10)(q25.3q25.3) de novo facial dysmorphism, clinodactyly of both hands, hypoplasia of the left great toe; pregnancy was terminated p21.1 p21.1     16470734   deletion was of maternal origin Edit
313 Unpublished_21831 46, XY, t(7;8)(p15;q22), t(10;11)(q26;q23) PDD/Aspergers syndrome?, ADHD, severe anxiety attacks, seizures, difficulties with fine and gross motor skills p21.1   G248P85779D8   21831 sister had similar phenotype, but her karyotype is normal; molecular cytogenetic data is not consistent with karyotype Edit
314 Ennis_ASHG2004 46, XX, t(3;7)(p13-p12.3;p21.1) de novo nasal glioma p21.1   RP11-123E5   patient 1 Ennis et al., ASHG 2004, Program #720 Edit
315 Ohba1993_2 4?, X?, t(7;8)(p21.1;p23.2) mat [der(8)t(7;8)(p21.1;p23.2) or +der(8)t(7;8)(p21.1;p23.2) inferred] growth retardation, psychomotor retardation, hypertelorism, wide fontanels/sutures, high/prominent forehead, high arched palate/cleft p21.1       12818527, 10494083 case 2 [Ohba et al., 1993], case 1 [12818527], case 40 [10494083] trisomy of 7p21.1-pter; first reported in Ohba et al., 1993, Teratology 48: 502 Edit
316 15108196_36_2 rev ish dim(7p14p15) de novo [inv(7p) was detected by PCR] mental retardation, speech delay, malformed ears, small downslanting palpebral fissures, hypermetropia(+6), broad neck, short extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p21.1 p15.2 rs12055954/ rs2704292 rs6946110/ rs6965433 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion in inversion breakpoint at 7p21.1 Edit
317 17363630_AU072203 del(7)(p21.1p21.1) [CNVs detected by CGH] autism p21.1 p21.1     AU072203 de novo CNVs containing one gene FLJ16237; ~0.15 Mb deletion Edit
318 21302340_22 4?,XX.arr 7p21.1(15,363,547–15,493,8 83)x1,12p13.31(5,415,793–5,5 78,438)x3 ASD p21.1 p21.1     21302340 case 22 ~130 kb deletion encompasses TMEM195; NCBI build 36.1 Edit
319 20473310_SK0443-003 4?,XY.arr (6p12.3)x3,( 7p21.1)x1 autism p21.1 p21.1 HDAC9   20473310 SK0443-003 ~4.8 kb loss Edit
320 18644119_3_2 46,XX,t(4;7)(q13.3;p15.3).ish del(4)(q13.3q13.3)(RP11-373J21-),d el(7)(p15.3p21.1)(RP11-445O1-,R P11-47E14-)mat moderate mental retardation, delayed motor milestones, seizures, ADHD, severe learning difficulties p21.1 p15.3     18644119 Case 3, 2 sisters mother has mild mental retardation Edit
321 Unpublished_13607 46, XY, del(7)(p15p21) craniosynostosis, developmentally delayed p21 p15     13607-PM data unpublished Edit
322 7521123_e 46, X?, del(7)(p15.1p21) de novo craniosynostosis, psychomotor retardation, plagiocephaly, mild campodactyly, renal pelvis malformation, immunodeficiency, choanal stenosis p21 p15.1     7521123, 12548740 e [7521123], case 3 [12548740]   Edit
323 537019_1 46, XY, del(7)(p13p21) de novo psychomotor retardation, brachydactyly (esp. thumbs), low set malformed ears, ptosis, high arched palate, rhizomelic shortening of the upper and lower limbs, other anomalies, hypoplstic genitalia, hypospadias, midfrontal hemangioma p21 p13     537019, 6800299, 7521123, 1519644, 7116680, 9520255, 12548740 case 1 (case 5 in Table 2) [537019], h [7116680], b [7521123], case 3 [12548740]   Edit
324 6800299 46, XX, del(7)(p13p21) de novo psychomotor retardation, abnormal cranial shape, cerebral paresis, gand mal epilepsy, dysplasia of both kidneys, hypertrophy of the clitoris, interatrial septal defect p21 p13     6800299, 7116680, 1519644, 7521123, 9520255, 12548740 case 8 [7521123], case 17 [12548740]   Edit
325 ECACC_95101903 46, XX, inv(7)(p21p15) phenotype not given p21 p15     95101903 (cell line: CC0166) www.ecacc.org.uk; data unpublished Edit
326 9792856_CP_1 46, XY, t(7;8)(p21;q13) de novo [microdeletion del(7)(p21p22.1)] craniosynostosis, facial asymmetry, low frontal hairline, ptosis, brachdeactyly, learning disabilities p21       9792856 CP   Edit
327 926137 46, XY, der(22)t(7;22)(p21;q13) pat heart abnormalities, small mandible, severe mental and motor retardation, high broad palate, split uvula, microbrachycephaly p21       926137, 7083611, 2679090, 2692511, 2363431, 10494083, 12818527 proband (IV-1) [926137], case 15 [2692511], case 34 [10494083] trisomy of 7p21-pter; father (lll-3), aunt (lll-6), uncle (lll-8), and grandfather (ll-2) had balanced t(7;22) and normal phenotype Edit
328 6512837 46, XX, t(7;13)(p21;q22) de novo phenotypically normal, multiple spontaneous abortions (husband had rob(13q;14q)) p21       6512837, 9660061 wife fetus had same translocation (her 3rd pregnancy) Edit
329 8494035 46, XY, der(5)t(5;7)(p15.2;p21) mat hypotonic, cri-du-chat, retrognathia, short neck, patent ductus arteriosus, micropenis, developmental delay, facial dysmorphia p21       8494035   trisomy of 7p21-pter; mother had balanced t(5;7) Edit
330 1277574 45, XX, dic(7;15)(p21;p11) severe developmental delay, prominent forehead, hypertelorism, downward slant of the eyes, low-set ears, high arched palate, micrognathia, funnel chest, pes varus, died at 6 months p21       1277574, 539602, 7116680, 3874588, 7521123, 12548740 NIG 1925 [1277574], 7 in Table 1 [539602], case 11 [7521123], case 18 [12548740] monosomy of 7p21-pter Edit
331 9272151 46, XX. ish t(7;13;8)(p21;q21;q24.1) del(8)(q24.1q24.1)(D8S42-, D8S50-, D8S547-, D8S98-, D8S1200-) de novo tricho-rhino-phalangeal syndrome type I p21       9272151, 16470734 MCN ID: 19850001-205 www.mcndb.org Edit
332 8362388_2 46, XY, der(7)del(7)(p21)inv(7)(p13p21) autism p21 p13     8362388, 9813777, 11733747     Edit
333 8527384_23_2 46, XX, der(7)del(7)(q21.3q31.3)inv(7)(p21q31.3) uterine leiomyoma p21 q31.3     8527384 23   Edit
334 8527384_16_2 46, XX, der(7)del(7)(q11.2q22)inv(7)(p21q32) uterine leiomyoma p21 q32     8527384 16   Edit
335 6944153_6 46, XY, inv(7)(p21q36) acute myeloblastic leukemia - M2 p21 q36     6944153 6 Mitelman Database, Reference No. 616 Edit
336 12152163_CAOV3_1 +1p, +1q21, -1q23-q32, +1q42, +2p25-q21, +3p, -3p21-p22, -4p12-p13.5, -4q21-qter, +5q13-pter, -5q11.2-q12, +6p23-q12, -6q21-qter, -7p21, +7p15-qter, -9p21-pter, -9q13-q22, +10, -11p12-pter, +11q12-q14, -11q23-qter, +12p12-pter, +12q24.2-q24.3, -13q, +14q24-qter, +15q23-qter, -16p12-p13.1, -16q13-q24, -17p13-q12, +17q21-qter, +18p11.2-pter, -18q12-qter, +19q13.2-qter, +20p11.2-qter, -21q21, +22q [CGH] serous ovarian carcinoma p21 p21     12152163 CAOV3   Edit
337 ECACC_93011410 46, XX, t(3;7)(p21.3;p21) mat phenotype not given p21       93011410 (cell line: HH0308) fetus; amnion sample; www.ecacc.or.uk Edit
338 2842036_GOS231_2 4?, XY, t(7;11)(q32;p15) [1 cell], del(13)(q14q22) [2/10 cells], +18 [30%] Wilms tumor p21-22 p14-21 D7S517/ D7S507 D7S673/ D7S485 2842036, 9690521 GOS 231   Edit
339 11280946_1 47, XY, +mar(14) pat [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, prominent ear crus, hypertelorism, clinodactyly of the 5th finger, motor developmental delay, learning disabilities p21 p21     11280946 patient 1 FISH and dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
340 11280946_2 46, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, learning disabilities p21 p21     11280946 patient 2 FISH and dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
341 11280946_3 4?, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, ptosis, low frontal hairline, prominent ear crus, hypertelorism, clinodactyly of the 5th finger, developmental delay, learning disabilities p21 p21     11280946 patient 3 dosage-sensitive Southern blot analysis showed heterozygous deletion of TWIST Edit
342 11280946_5 46, XY [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: craniosynostosis, prominent ear crus, hypertelorism, motor developmental delay, learning disabilities p21 p21     11280946 patient 5 dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST; son of patient 11280946_5B, sib of patient 11280946_5A Edit
343 11280946_5A 46, XY [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: prominent ear crus, hypertelorism, tear duct stenosis, partial duplication of the 1st toe p21 p21     11280946 patient 5A dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST; son of patient 11280946_5B, sib of patient 11280946_5 Edit
344 11280946_5B 46, XX [del(7)(p21p21) detected by FISH] Saethre-Chotzen syndrome: prominent ear crus, hypertelorism, brachydactyly with broad thumbs and first toe p21 p21     11280946 patient 5B dosage-sensitive Southern blot analysis showed partial deletion/rearrangement in/around TWIST, but it was not visualized by FISH; mother of patient 11280946_5 and 11280946_5A Edit
345 10360374_2_1 46, XX, inv(7)(p21q23), t(9;22)(q34;q11) [21]/ 46, XX, inv(7)(p23q23) [4] adult acute lymphocytic leukemia p21 q23     10360374 2 Mitelman Database, Reference No. 8064 Edit
346 3359679_3 46, XX, der(18)t(7;18)(p21;p11) pat hypotonic, brachycephaly, mild hypertelorism, microphthalmia, high arched palate and macroglossia, micrognathia, prognathia, skeletal abnormalities p21       3359679, 2679090, 2692511, 10494083, 12818527 case 3 (B.III.8, Family B) [3359679], case 13 [2692511], case 37 [10494083] trisomy 7p21-pter; father had balanced t(7;18); sister of 3359679_2 Edit
347 ECACC_91031202 46, XX, t(2;7)(q33;p21) de novo short stature, cerebral palsy, cleft palate p21       91031202 (cell line: BO0213) www.ecacc.org.uk; data unpublished Edit
348 12687662_r(7) r(7)(p21q32) microcephaly, agenesis, multiple congenital anomalies p21 q32     12687662 r(7) in Table 5   Edit
349 10495929_t(2;7)(q24;p21) 46, XY, t(2;7)(q24;p21) mental retardation p21       10495929 in Table 1   Edit
350 2917120_2 46, XY, del(7)(p12p21) Hodgkin's disease, acute myeloid leukemia p21 p12     2917120 2 (J.V.H.) [58283-83] Mitelman Database, Reference No. 2742 Edit
351 2917120_3 46, XY, del(7)(p12p21) polycythemia vera, acute myelomonocytic leukemia - M4 p21 p12     2917120 3 (L.N.) [56960-2] Mitelman Database, Reference No. 2742 Edit
352 6235485_lab29 46, XY, t(7;11)(p21;q21) mat phenotype not given p21       6235485 balanced autosomal rearrangement from lab 29 amniocentesis Edit
353 2598167_10 46, XY, del(7)(p12p21) [100%] Hodgkin's disease IIIB, mixed cellularity -> therapy-related acute myeloblastic leukemia - M2 p21 p12     2598167 10   Edit
354 2598167_33 46, XY, der(3), del(7)(p11p21) [40%] / 46, XY, del(2)(p14), del(7)(p11p21) [40%] multiple myeloma IgGK -> therapy-related myelodysplastic sydrome p21 p11     2598167 33   Edit
355 10424810_2 46, XX, der(17)t(7;17)(p21;q25) developmental delay, dysmorphic features p21       10424810 case 2 trisomy of 7p21-pter Edit
356 10417281_1 46, XX, t(2;7)(q33;p21) de novo motor developmental delay, language delay, learning disabilities, cleft palate, prominent nasal bridge, small mouth, long and slender fingers p21       10417281 case 1, MCN ID: 19990006-999 www.mcndb.org Edit
357 14999294_49 46, XY, add(7)(p21), del(15)(q22) acute lymphoblastic leukemia p21       14999294 49 Mitelman Database, Reference No. 10554 Edit
358 14999294_50 47, XY, -1, del(2)(p13p23), +5, der(7)t(1;7)(p22;p21), del(9)(p22), +mar acute lymphoblastic leukemia p21       14999294 50 Mitelman Database, Reference No. 10554 Edit
359 2714786 46, XY, t(2;7)(q34;p21)del(2)(q34q36) de novo developmental retardation, low-set ears, micrognathia, short neck, abundant skin of the neck, tetralogy of Fallot, bipartite labia-like scrotum, clitoris-like penis, cryptorchism, deformities of the hands and feet p21       2714786 proband, 5-month-old boy   Edit
360 3538996_DI1a 46, X?, inv(7)(p2109q11.200) stillbirth p21 q11.2     3538996 DI1a   Edit
361 3538996_RE1 46, XX, inv(7)(p2109q11.200) recurrent abortions p21 q11.2     3538996 RE1   Edit
362 3538996_ST1 46, XY, inv(7)(p2109q11.200) pat phenotypically normal p21 q11.2     3538996 ST1 father had same inversion Edit
363 3538996_TO1 46, XY, inv(7)(p2109q11.200) phenotypically normal p21 q11.2     3538996 TO1 sister had trisomy 21, child had same inversion Edit
364 3538996_LI1a 46, XX, inv(7)(p2100q2100) phenotypically normal; mother of child with trisomy 21 (w/o inv(7)) p21 q21     3538996 LI1a two sisters had same inversion Edit
365 3538996_PA12a 46, XY, inv(7)(p2100q2100) phenotypically normal; father of stillbirth p21 q21     3538996 PA12a   Edit
366 3538996_SE1a 46, XY, inv(7)(p2100q2100) phenotypically normal; wife had recurrent abortions p21 q21     3538996 SE1a   Edit
367 3538996_SE1b 46, XY, inv(7)(p2100q11.22) pat sterility p21 q11.22     3538996 SE1b father had same inversion Edit
368 3538996_LY1 46, XY, inv(7)(p2100q11.22) mat leukemia p21 q11.22     3538996 LY1 father and paternal half-brother had same inversion Edit
369 3538996_MA1 46, XY, inv(7)(p2100q3109) phenotypically normal; wife had recurrent abortions p21 q31     3538996 MA1   Edit
370 7474065 46, X?, der(7)t(7;11)(p21;q32) mat cyclopia p21       7474065, 10521829   monosomy of 7p21-pter Edit
371 MCN_19940001-124 46, XX, t(2;7)(q14;p21) facies significantly abnormal, Mental retardation p21       MCN ID:19940001-124 www.mcndb.org Edit
372 MCN_19850070-114 46, XX, t(7;10)(p21;q22) infertility p21       MCN ID: 19850070-114 www.mcndb.org Edit
373 MCN_19860002-061 46, XX, t(7;10)(p21;q21) infertility p21       MCN ID: 19860002-061 www.mcndb.org Edit
374 MCN_19850005-114 46, XY, t(7;16)(p21;q21) scoliosis, enuresis 2, short stature - postnatal p21       MCN ID:19850005-114 www.mcndb.org Edit
375 MCN_20020003-114 46, XX, t(7;17)(p21;q11) habitual abortion p21       MCN ID:20020003-114 www.mcndb.org Edit
376 2012130_7 46, XX, der(12)(7;12)(p21;p13) pat features suggestive of chromosomal rearrangements or multiple malformations, and developmental delay? p21       2012130 7th case from top in Table III trisomy of 7p21-pter Edit
377 1423225 46, XX, t(7;17)(p15-21;q12-21) [3]/ 46, idem, -7, +der(?)t(?;7)(?;q11) [5]/ 45, idem, -7, dic(15;22)(p11;p11), +der(?)t(?;7)(?;q11) [2]/ 46, XX [1] low-grade endometrial stromal sarcoma p21 - 15 q11     1423225, 7923082, 7497450, 10432932, 10335941, 12850374 3 [7497450, 12850374], 4 [7923082, 10335941], 5 [10432932] Mitelman Database, Reference No. 4523 Edit
378 1933818 46, XX, t(7;13)(q11.1;p13), t(7;17)(p21;q12), del(11)(q13q21) low-grade endometrial stromal sarcoma p21 q11.1     1933818, 1423225, 7923082, 7497450, 10335941, 10432932, 12850374 9 [1423225], 3 [7923082, 10432932], 2 [7497450, 10335941, 12850374] Mitelman Database, Reference No. 3980 Edit
379 9309124 46, XX, t(7;17)(p14-21;q11.2-21), der(7)t(7;16)(p14-15;q22)t(7;9)(q22;q22), der(9)t(7;9)(q22;q22), del(16)(q22) [9]/ 47, idem, del(3)(p13p23), +mar [2]/ 46, XX [8] low-grade endometrial stromal sarcoma p21 -14 q22     9309124, 10432932, 12850374 11 [10432932, 12850374] Mitelman Database, Reference No. 7093 Edit
380 10335941_2_2 53-55, X, -X, del(1)(p32), +del(1)(p21), +der(1)t(1;3)(p32;p21), del(3)(p21), +der(3;15)(q10;q10), -5, +6, +der(6)add(6)(p11)add(6)(q27), add(7)(p11), +add(7)(p21), +8, +8, -11, -13, der(13;21)(q10;q10), add(14)(p11), der(15)t(6;15)(p21;p12), der(17)t(3;17)(p21;p13)x2, +18, +18, add(19)(q13), -20, der(21;21)(q10;q10), +2mar, +dmin endometrial stromal sarcoma p21 qter     10335941, 12850374 2 [10335941], 17 [12850374] Mitelman Database, Reference No. 8154 Edit
381 8382105_7 46, XX, del(5)(q33), der(7)t(6;7)(p21;p21) endometrial stromal sarcoma p21       8382105, 10335941, 12850374 7 [8382105], 6 [10335941, 12850374] Mitelman Database, Reference No. 4967 Edit
382 8382105_12 54-59, XX, dup(4)(q28), del(6)(q16), add(7)(p21), del(11)(q21-22), inc uterine metaplastic carcinoma p21       8382105 12 Mitelman Database, Reference No. 4967 Edit
383 8818702_1 46, XX, del(6)(q15), der(6)t(6;11)(p21;q11), add(7)(p21), t(7;17)(p15-21;q12-21), +9, -11 endometrial stromal sarcoma p21 - 15       8818702, 10335941, 10432932, 12850374 10 [10335941, 10432932, 12850374] Mitelman Database, Reference No. 6861 Edit
384 8818702_2 46, XX, del(6)(q15), der(6)t(6;11)(p21;q11), add(7)(p21), t(7;17)(p15-21;q12-21), +9, -11 endometrial stromal sarcoma p21       8818702, 10335941, 10432932, 12850374 10 [10335941, 10432932, 12850374] Mitelman Database, Reference No. 6861 Edit
385 11054065_32 45, X?, add(7)(p21), -8, add(11)(p13), add(14)(q32), inv(14)(q11q32), add(17)(q25) T-cell prolymphocytic leukemia p21       11054065 sample 32 Mitelman Database, Reference No. 8941 Edit
386 3471306_3_1 47, XY, +8/ 47, idem, del(7)(p1?4p2?1), der(11)t(7;11)(p1?5;p15) chronic myeloid leukemia-atypical p21 p14     3471306, 8353806 3 [3471306], 6 [8353806] Mitelman Database, Reference No. 1900 Edit
387 14513052_32 4?, X?, t(8;14) [+7p14-p21 by CGH] Burkitt's lymphoma p21 p14     14513052 32   Edit
388 14513052_45 4?, X?, dup(1)(q22q31), t(8;14) [+1p22-p32, +3p21-p25, +4p13-p16, +4q21-q31, +7p13-p21, +8, +9q21-q31, +10, +11, +12q14-q22, +13q13-q21, +14q21-q31, +Xq12-q28 by CGH] Burkitt's lymphoma p21 p13     14513052 45   Edit
389 12682631_41 4?, XY, del(7)(p11p21) [partial karyotype] precursor T-cell lymphoblastic leukemia/lymphoma p21 p11     12682631 41   Edit
390 12682631_42 4?, XY, del(7)(p1?3p21) [partial karyotype] precursor T-cell lymphoblastic leukemia/lymphoma p21 p1?     12682631 42   Edit
391 12682631_43 4?, XY, del(7)(p?14p?21) [partial karyotype] precursor T-cell lymphoblastic leukemia/lymphoma p21 p14     12682631 43   Edit
392 12682631_23 4?, XX, t(7;?8)(p21;q21) [partial karyotype] precursor T-cell lymphoblastic leukemia/lymphoma p21       12682631 23   Edit
393 8289502_1_2 85-89, XXYY, del(1)(p32)x2, add(3)(q12), del(4)(p13), add(5)(q35), ?der(7)add(7)(p21)del(7)(q32q34), add(10)(q26), del(11)(q23), der(16)t(Y;16)(q12;p13), inc/ 92, XXYY Hodgkin disease, mixed cellularity p21       8289502 1 Mitelman Database, Reference No. 5337 Edit
394 12810249_1 4?, XY [-1p31.2-pter, -7p12-p21 detected by CGH] radiation-induced meningioma: radiation for acromegaly p21 p12     12810249 1   Edit
395 7987800_7_1 46-47, XX, t(3;16)(p14;p13), add(4)(q3?3), inv(4)(p15q33), dup(5)(q32q34), der(6)add(6)(p24)add(6)(q15), del(7)(p15p21), der(7)?t(6;7)(q15;p15), ins(9;?)(q21;?), -10, -10, del(13)(q12q14), del(15)(q15), -17, -19, add(19)(q13), ins(20;1)(q13;q24q32), +add(22)(q13), +3-4mar [7] /46, XX [13] [skin] mycosis fungoides p21 p15     7987800 7 (L64/91) Mitelman Database, Reference No. 5593 Edit
396 7987800_8_1 47-50, XX, +1, +der(3)t(3;9)(q26;q33), t(3;9), dup(4)(q3?1q3?3), der(6;12)(p10;p10), t(6;10)(q2?2;q22), +7, +der(7)t(7;11)(p21;q13), i(8)(q10), -11, -13, +del(16)(q23), -17, +18, der(22)t(17;22)(q21;q12)ins(22;?)(q12;?)add(17)(q21) [37] [skin] mycosis fungoides p21       7987800 8 (L154/91) Mitelman Database, Reference No. 5593 Edit
397 7987800_34_2 76-78, XXY, +Y, +del(1)(p32), der(2)t(2;5)(q36;q31)x2, t(2;7)(q10;p10), der(5)t(3;5)(q21;q31)x2, del(6)(q15q2?3), +add(7)(p21), +der(7)t(7;13)(p15;q14), del(9)(q22q34),a dd(10)(q?), -12, -13, del(13)(q1?4)x2,+14,i(17)(q10),+ 18,+19,+21,+22,+ 4mar [10] /46, XY [54] [lymph node, PHA] peripheral T-cell lymphoma p21       7987800 34 (L208/87) Mitelman Database, Reference No. 5593 Edit
398 539602_2 46, XY, rec(7)dup(7)(p15p21)ins(7)(q22p15p21) mat severe mental deficiency, psychomotor retardation, hydrocephalus p21 p15     539602, 2679090, 2363431, 8839888, 10494083 patient 2 (II-7, uncle) [539602], Ref. 13 [8839888], case 18 [10494083] duplication of 7p15-p21; uncle of 539602_1, brother of 539602_mother Edit
399 2265404_32 46, XX, t(4;7)(q35;p21) [100%] adenocarcinoma of the thyroid p21       2265404 32 Mitelman Database, Reference No. 3637 Edit
400 9973943 46, XY, inv(7)(p21q31) [15]/ 46, XY [10] [bone marrow] acute myeloblastic leukemia - M2 (de novo) p21 q31     9973943   Mitelman Database, Reference No. 7840 Edit
401 8280871_baby 69, XXX, rec(7)dup(7p)inv(7)(p21q32), rec(7)dup(7q)inv(7)(p21q32) pat prominent occiput with open posterior fontanelle, low-set and small ears, iris colobomata, microphthalmia, possible glaucoma, hypotelorism, prominent nose, microstomia, hypoplastic external genitalia, bilateral complete 3/4 syndactyly of fingers, syndactyly of VI-V toes on the left, equinus deformity on the right foot, holosystolic murmur, enlarged heart, died the day after birth p21 q32     8280871 baby balanced rearragement Edit
402 8280871_father 46, XY, inv(7)(p21q32) phenotypically normal p21 q32     8280871 father   Edit
403 3359679_2 46, XX, der(18)t(7;18)(p21;p11) pat severely hypotonic,mentally retarded, a number of dysmorphic features, brachycephaly, hypertelorism, microphthalmia, micrognathia, prognathia p21       3359679, 2679090, 2692511, 10494083, 12818527 case 2 (B.III.6, Family B) [3359679], case 12 [2692511], case 36 [10494083] trisomy 7p21-pter; father had balanced t(7;18); sister of 3359679_3 Edit
404 1377933_3_1 45, XY, der(4)t(4;17)(p16;q12), -17/ 45, idem, del(1)(q21q42), t(4;10)(q?22;q23)/ 45, idem, der(7)t(7;17)(p21;q21), del(13)(q13q31), -17, +mar/ 45, idem, del(5)(q23q35), del(13)(q13q14), ins(15;7)(q15;q36q11) [28] cp chronic lymphocytic leukemia p21       1377933, 15360001 3 [1377933], Ref. 23 [15360001] Mitelman Database, Reference No. 4322 Edit
405 1377933_42 46, XY, der(7)t(7;7)(p?21;q?22)/ 46, XY, add(19)(q13) chronic lymphocytic leukemia p21 q21     1377933 42 Mitelman Database, Reference No. 4322 Edit
406 15325089_28 45, XY, der(5)t(5;19)(q10;p10), der(?)t(?;7)(?;p21), der(12)t(12;18)(p?;q?), del(16)(q11), -17, der(18)t(17;18)(q21;q?), dup(22)(q?) [revised based on CGH & FISH] acute monoblastic leukemia - M5 p21       15325089 28 Mitelman Database, Reference No. 10755 Edit
407 7529549 54-57, X, -Y, +add(1)(p13), -2, +add(7)(p21), +8, +add(12)(p11), +add(12)(q14), +i(12)(p10), +add(16)(q13), +21, +3-8mar Wilms tumor of the testis p21       7529549   Mitelman Database, Reference No. 5510 Edit
408 10686941_12 45, XY, add(1)(p34), add(4)(q25), inv(7)(p21q22), -11, der(22)t(11;22)(?;q11) [4]/ 44-46, idem, del(1)(q32)[4], der(9)t(1;9)(q12;q31)[11], add(16)(q12)[12], del(19)(q13)[7], -22[3], add(22)(p11)[3], +mar[6] [cp12] Wilms tumor p21 q22     10686941 12 Mitelman Database, Reference No. 8120 Edit
409 11835232_199_1 51, XX, +der(5)t(1;5)(q?31;q2?2), +7, +der(8)t(1;8)(q12;q23), +12, +20 [4]/ 51, idem, add(7)(p21) [9]/ 52, idem, +12 [7]/ 53, idem, +11, +12 [6] Wilms tumor p21       11835232 199 Mitelman Database, Reference No. 9439 Edit
410 15325092_4 45, XY, del(7)(p15p21), der(11)t(11;18)(p11;q11), der(12)del(12)(p11)del(12)(q15q24), del(16)(q22), del(18)(q12), -20 [9] [karyotyped by SKY]
rev ish enh(21), dim(2p21p22, 5p15.3, 5q34, 6q26, 7p15p21, 8p23, 11q14q22, 12, 16q22qter, 18p11.3, 18q12, 20p-q13.2 [detected by CGH]
refractory anemia with excess of blasts in transformation p21 p15     15325092, 15611930 4 Mitelman Database, Reference No.10754 Edit
411 539602_1 46, XX, rec(7)del(7)(p15p21) ins(7)(q22p15p21) mat psychomotor developmental retardation, microcephaly, low-set ears, wide cranial sutures, ocular hypotelorism, cleft palate, congential heart defect (tetralogy of Fallot, membranous VSD), bilateral hydronephrosis, imperforate anus, enlarged clitoris p21 p15     539602, 6800299, 1519644, 7521123, 12548740 patient 1 (III-3, preposita, RW 040676) [539602], case 10 [7521123], case 14 [12548740] deletion of 7p15-p21; daughter of 539602_II-15; niece of 539602_II-7 Edit
412 539602_mother_1 46, XX, ins(7)(q22p15p21) mat phenotypically normal p21 p15     539602 mother (ll-15) mother of 539602_1 Edit
413 1915938 46, XY, t(7;13)(p21;q22) phenotypically normal p21       1915938, 9660061 mother fetus had same translocation; husband (father of fetus) had rob(13q;14q) Edit
414 10360377_39 der(9)t(7;9)(p21;p21) acute lymphoblastic leukemia p21       10360377 KOPN-39 Mitelman Database, Reference No. 8065 Edit
415 15325092_19_2 46, XY, del(7)(q11.2), del(20)(q11) [16]/ 46, XY [5] [karyotyped by SKY]
rev ish enh(12q21q23, 17q11.2q21), dim(2p22, 4p15.3p16, 5p15.1p15.3, 5q34qter, 7p21, 7q21qter, 11q22, 18q11qter, 20p12, 20q11qter, 21q22, Xq21) [detected by CGH]
refractory anemia with excess of blasts in transformation p21 p21     15325092, 15611930 19 Mitelman Database, Reference No.10754 Edit
416 15737130 46, XY, del(7)(p15.2p21) Saethre-Chotzen syndrome: craniosynostosis, maxillary hypoplasia, prominent ear crus; hand-foot-genital syndrome: rectoperineal fistula, hypoplastic 5th finger p21 p15.2   RP11-1132K14/ RP11-282C11 15737130   TWIST (RP11-455K15) and HOXA cluster (RP11-1132K14) were deleted; RP11-816F16 (GLI3) was not deleted Edit
417 15325092_2 47, XY, +8, t(1;20)(q23;q11) [12]/ 46, X, Y, +8, t(1;20)(q23;q11) [3] [karyotyped by SKY]

rev ish enh(8(x2),10q11.2, 16q13q21), dim(7p21, 10p12, 10p21, 11q23, 12q21, 12q24.1, 13q21, 13q31, 20q12q13.1, Y, Xp22.3) [detected by CGH]
refractory anemia with excess of blasts in transformation p21 p21     15325092, 15611930 2   Edit
418 15325092_12 46, XX, del(17)(p11.2) [2]/ 46, XX, i(17)(q10) [5]/ 46, XX, idem, del(19)(p?) [9]/ 46, XX [2] [karyotyped by SKY]

rev ish enh(1p36.3, 4q28, 17q11qter, 22q13), dim(4p16, 4q31q33, 6p22, 7p21, 16q22q23, 17p11pter, Xq25q27) [detected by CGH]
refractory anemia p21 p21     15325092, 15611930 12   Edit
419 15611930_28_1 54-55, complex karyotype

rev ish enh(1, 4q28q33, 6, 8, 10, 11, 13, 14, 19, 21q22), dim(3q29, 5q14q22, 7p21, 7q21q35, 9p23pter, 17q23q24) [detected by CGH]
refractory anemia with excess of blasts in transformation p21 p21     15611930 28   Edit
420 Shetty_ASHG205_2 46, XX, t(7;8)(p15.2;q11.2) del(7)(p21p21) de novo [refined by FISH] craniosynostosis, dysmorphic features p21 p21       Shetty et al., ASHG 2005, Program #864 Edit
421 15162125_4 46, XY, t(7;11)(p21;p23) mental retardation p21       15162125 case 4 familiar translocation Edit
422 15099347 46, XX . ish de(7)(p21p21)(cosIIIA9-) mat Saethre-Chotzen syndrome: craniosynostosis, facial asymmetry, ptosis, prominent crus helices of the ear, brachydactyly p21 p21 RP11-384L2/ cosIIIA9 cosIIIA9/ AC006381 15099347 proband (V-5) deletion of the TWIST gene was detected in 13 family members in five-generation family; mother, two brothers, maternal aunt and maternal grandfather had BPES (blepharophimosis ptosis epicanthus inversus syndrome) -like phenotype Edit
423 15039973_DD8501948 46, XX, der(7)t(4;7)(q31;p21) pat phenotype not given p21       15039973 DD8605648 monosomy of 7p21-pter Edit
424 15039973_DD9601631 46, XY, inv(7)(p15.1p21) reproductive difficulties p21 p15.1     15039973 DD9601631   Edit
425 16364762_19 42-43, der(X)t(X;8)(q22;q22), -Y, add(1)(p12), der(2)t(1;2)(q12;q21), add(3)(q11), +del(3)(p21), der(4)t(4;8)(q35;q21)ins(4;?)(q35;?)hsr(4)(q31), add(5)(q11), +der(5)t(1;5)(p22;q21), -8, -9, -9, -10, add(11)(p15), del(11)(q21), +del(11)(q13)x2, add(12)(q13), -13, add(15)(q22), der(16)t(7;16)(p13;p11), der(17)i(17)(q10)t(15;17)(q23;q23)ins(17;?)(q23; ?), -18, -19, -19, -22, +2-3mar [4]/ 44, idem, -6, der(13)t(10;13)(q11;p13), +2-5mar [3]/ 45-46, X, -Y, del(1)(q32), der(1)hsr(1)(p12)t(1;8)(p22;q13)ins(1;?)(p22;?), der(2)t(1;2), der(2)t(2;8)(p23;q22), del(3)(q12), +der(3)del(3)(p21)t(3;8)(q27;q13), der(5)t(1;5)(q32;p13), add(7)(p21), -8, -8, -9, -9, del(11)(q21), +der(11)t(1;11)(p32;q23), -12, -13, add(15)(q22), der(17)i(17)(q10)t(15;17)ins(17;?), -19, +3-7mar [cp6] squamous cell carcinoma of the oral cavity - Tonsil p21 p13     16364762 19 Mitelman Database, Reference No. 11284 Edit
426 Toksoy_ESHG2006_1 46, XY, der(7)(pter-> p21::q34-> q31.2::p21-> p15.3::q11.23-> q31.2::p15.3-> q11.23::q34-> qter) de novo severe growth retardation, trigonocephaly, short neck, dysmorphic face, cleft palate, digital anomalies; died at 41 days of age p21 p15.3       Toksoy et al., ESHG, 2006, P0371 Edit
427 8418369_31 47, XX, +i(1)(q10), t(1;19)(q23;p13), der(7)t(1;7)(q11;p21) acute lymphoblastic leukemia - L2 p21       8418369 31 monosomy of 7p21-pter; Mitelman Database, Reference No. 4743 Edit
428 14669294_66 45, XX, der(7)t(7;10)(p21;q11), -10 [8] B cell acute lymphoblastic leukemia p21       14669294 66 monosomy of 7p21-pter; Mitelman Database, Reference No. 10441 Edit
429 16254181 t(7;21)(p21;q22) prostate cancer p21   ETV1   16254181   ETV1 (at the beginning of exon 4) fused toTMPRSS2 (21q22); Mitelman Database Reference No. 11191 Edit
430 16616106_74 46, XX, ?del(7)(p14p21), −21, +mar. ish mar(AML1amp, wcp21+) [10]/ 46, XX [2] B-cell acute lymphoblastic leukemia p21 p14     16616106 74   Edit
431 15190256_28 46, XX, t(9;22) [16]/ 46, XX [3] [before Cx]
46, XX, del(7)(p13p21) [7]/ 46, XX [23] [8 mo after Cx]
chronic myeloid leukemia p21 p13     15190256 28 Mitelman Database Reference No. 10684 Edit
432 17108102_PC374 t(7;21)(p21;q22) prostate cancer, androgen-sensitive p21   ETV1   17108102 PC374 TMPRSS2/ETV1 fusion; exon 1 or 2 of ETV1 fuses to exon 5 of TMPRSS2 (two splice varians); Mitelman Database, Reference No. 11717 Edit
433 18255367_1 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development p21       18255367 proband   Edit
434 18941867_2_1 4?,XY.arr −5q22qter, +7p14p21, +7q11.2q22, −7q31qter, +8, +9, +12, −13, −14, −17p adult infratentorial glioma, glioblastoma p21 p14     18941867 Case 2 7p gain detected in 5 of 11 cases (45%) Edit
435 22549442_14_1 42,XY,add(2)(q33),–5,a dd(7)(p21),–14,–16,–1762,- 1862,–20,–2162,–22,+7,m ar Acute myeloid leukemia p21 p21     22549442     Edit
436 1959919 46, XX, ins(7;1)(p15.3;q12q21.3) mat? six spontaneous abortions, otherwise phenotypically normal p15.3       1959919 proband (II-8) daugher (III-11), monozygotic twin sister (II-7) and her daughter (III-3) had same insertion; mother (I-4) had three multiple spontaneous abortions from her first husband (I-5) Edit
437 DGAP096 46, XY, t(3;7)(q23;p15.3), inv(10)(p11.23q25.3) developmental delay, VSD/ASD/PDA, question of laryngeal cleft, hydronephrosis and reflux, ventriculomegaly (in utero), Brachycephaly, deep-set eyes, epicanthal folds, large mouth, short nose, large ears, hypoplastic nasal root, short fingers, bilateral hydrocoeles, small umbilical hernia, peripheral hypertonia (at 19 mos), astrocytoma at 26 months of age, endocrine dysfunction secondary to astrocytoma p15.3       DGAP096 http://www.bwhpathology.org/d gap/ Edit
438 10364539 46, XY, del(7)(p14p14) de novo hand-foot-genital syndrome, facial dysmorphism, velopharyngeal insufficiency, persistent patent ductus botalli p15.3 p14.2 rs6977167/ rs7781329 rs2392325/ rs1207908 10364539, 15378350 case 3 [15738350] deletion involved the entire HOXA gene cluster Edit
439 8488873_1 46, XX, der(9)t(7;9)(p15.3;p24) de novo developmental delay, hypotonia, widely spaced nipples, long fingers and toes, abnormal dermatoglyphics, high arched palate, epicanthic folds, upward slant of palpable fissures p15.3       8488873, 9084937, 10494083 patient 1 (K.H.) [8488873], case 33 [10494083] trisomy of 7p15.3-pter Edit
440 11562935 46, XY, der(Y)t(Y;7)(p11.32;p15.3) mentagrowth deficiency, postnatal microcephaly with large fontanels, wide sagittal and metopic sutures, hypertelorism, choanal stenosis, micrognathia, bilateral cryptorchidism, hypospadias, abnormal fingers and toes, severe developmental delay l retardation p15.3       11562935   trisomy of 7p15.3-pter; TWIST gene is translocated onto der(Y) Edit
441 1920914 46, XY, t(1;7)(q31.2;p15.1-p15.3) de novo HMC syndrome: hypotelorism, microtia, cleft palate; speech delay, hypoplastic eyelids, abnormal ears, micrognathia, short anterior face p15.3 - 15.1       1920914 MCN ID: 19910002-999 first reported in Motohashi et al., 1985, Cong Anomal 25:181-90; MCN ID: 19910009-999 may be same patient or from same family; www.mcndb.org Edit
442 10083730_2 46, XX, der(4)t(4;7)(q35;p15.3) mat multiple congenital anomalies, hydrocephaly, mental retardation p15.3       10083730 first child (Family 2) trisomy of 7p15.3-pter; mother had balanced t(4;7) Edit
443 15036888 46, XX, t(5;7)(q11.2;p15.3) [at diagnosis - MDS]
46, XX, t(5;7)(q11.2;p15.3)c, der(7)t(5;7)t(?1;7)(q?;q?) .ish der(7)t(5;7)c, t(1;7)(q32.1;q32.1)(wcp1+, wcp7+) [AML]
myelodysplastic syndrome --> acute myelomonocytic leukemia - M4 p15.3 q32.1     15036888   Mitelman Database, Reference No. 10518 Edit
444 MCN_19950001-114 46, XY, t(2;7)(p21;p15.3) mental retardation, everted/protuding lips, autism, abnormal ear shape/structure, anteverted/prominent/b at ears, seizures p15.3       MCN ID: 19950001-114 www.mcndb.org Edit
445 8322814 46, XX, t(1;7)(p11.1;p11.1) pat, +der(7)t(7;13)(p15.3;q12.3) mat, -13 [4.2%]/ 46, XY [95.8%] intrauterine fatal death at 6 weeks p15.3 p11.1     8322814, 9660061 III-6 two cell lines with different sex chromosomes indicated the abortus was derived from two sperms [23,Y & 23,X,t(1;7)] and two ova [23,X & 23,X,+der(7)t(7;13),- 13]; mother had balanced t(7;13), and father had balanced t(1;7); mother had multiple spontaneous abortions Edit
446 3570287_inv(7)(p15.3q11.2) 46, XX, inv(7)(p15.3q11.2)mat, 1qh+ mat phenotype not given p15.3 q11.2     3570287 one of 13 familiar inversion cases [Table 1]   Edit
447 15039973_DD9705086 46, XX, t(1;7)(p13.3;p15.3) abnormal phenotype p15.3       15039973 DD9705086   Edit
448 MCN_20050013-114 46, XX, inv(7)(p15.3q11.23) phenotype not given p15.3 q11.23     MCN ID: 20050013-114 karyotyped for prenatal diagnosis; www.mcndb.org Edit
449 17228165 46, XX, der(9)add(9p24),1 6qh+ [der(9)t(7,9)(p15.3,p 24)mat] growth-retarded fetus with agenesis of the corpus callosum, enlarged left kidney, single umbilical artery, hypertelorism, depressed nasal bridge, frontal bossing, irregular maxiller alveolar composition, club feet, flexion deformity of the upper extremities, Epstein anomaly, died at 31 week of gestation p15.3       17228165 fetus trisomy of 7p15.3-pter; mother had balanced t(7;9) and 16qh+ Edit
450 18644119_3_1 46,XX,t(4;7)(q13.3;p15.3).ish del(4)(q13.3q13.3)(RP11-373J21-),d el(7)(p15.3p21.1)(RP11-445O1-,R P11-47E14-)mat moderate mental retardation, delayed motor milestones, seizures, ADHD, severe learning difficulties p15.3       18644119 Case 3, 2 sisters mother has mild mental retardation Edit
451 22565194 46,XX,del(7)(p15.3-p15.1).arr 7p15.3p15.1(20,469,062–30,5 82,316)×1 dn IUGR, feeding problems with episodes of cyanosis, failure to thrive, low implantation of ears, hypertelorism, oblique palpebral fissures, retrognathia, palate ogived, toe insertion anomalies, poor facial expression, mild axial hypotonia, mild psychomotor developmental delay, speech problems, patent ductusarteriosus, Legg–Calvé–Perthes disease p15.3 p15.1     22565194     Edit
452 23825006 46,XY.arr arr4q13.2q13.3(67,006,250-71,0 68,535)x1 dn,7p21.1p15.3(17,326,553-22,8 69,338)x1 dn [hg19] autistic behaviours, DD, Saethre–Chotzen syndrome, brachycephalicand acrocephalic head, facial asymmetry, high and narrow forehead, sparse and arched eyebrows, hypertelorism, bilateralblepharophimosis and ptosis, epicanthus inversus, depressedand deviated nasal bridge, anteverted nares, maxillaryhypoplasia, strabismus, low set and posteriorly angulated ear with uplifted lobe and prominent crus helixes, cutaneous syndactyly between 2nd and 3rd fingers p15.3 p21.1     23825006   5.5 Mb deletion; discussion of TWIST1 as candidate gene Edit
453 22631585 4?,XY.arr 7p15.3-p15.1(22,460,185-29,360,9 60)x1 de novo hand-foot-genital syndrome, developmental delay, speech delay, clinodactyly of 5th fingers, curved and broad great toe, short toes, low-set ears, posterior rotated ears, bifrontal narrowing forehead, short stature, neonatal feeding difficulty p15.3 p15.1     22631585   ~6.9 Mb deletion, paternal origin Edit
454 11371647_BWH-42 46, XX, t(7;13)(p15;p13), t(7;17)(p15;q21) endometrial stromal tumor p15.2   JAZF1_exon3   11371647, 12850374 BWH-42 [11371647], 19 [12850374] JAZF1/JJAZ1 fusion; Mitelman Database, Reference No. 9086 Edit
455 11371647_BWH-665 46, XX, t(7;17)(p15;q21) endometrial stromal tumor p15.2   JAZF1_exon3   11371647, 12850374 BWH-665 [11371647], 20 [12850374] JAZF1/JJAZ1 fusion; Mitelman Database, Reference No. 9086 Edit
456 4019594_GM3118 46, XX, del(11)(p13p11.2)/ 46, XX, del(11)(p13p11.2), t(7;22)(p15;p12) [34%] Wilms tumor, bilateral aniridia p15.2       4019594, 3014343, 2539014 AG3118 [4019594], GM3118 [3014343, 2539014] CCR NIGMS Human Genetic Cell Respository (GM03118) Edit
457 10848835 46, XY, t(9;22)(q34;q11) [20] [at chronic phase: 02/1997] 46, XY, t(7;11)(p15;p15), t(9;22)(q34;q11) [20] [at blast crisis: 05/1998] 46, XY, t(7;11)(p15;p15), +8, t(9;22)(q34;q11), +der(22)t(9;22)(q34;q11) [4] [at blast crisis: 05/1999] chronic myeloid leukemia p15.2   HOXA9_exon1   10848835   NUP98/HOXA9 fusion; Mitelman Database, Reference No. 8721 Edit
458 8353806_2 46, XX, t(7;11)(p15;p15) [10] [1st admission, Jun/1992]
46, XX [17]/ 46, XX, t(7;11)(p15;p15) [3] [partial remission, Nov/1992]
46, XX, t(7;11)(p15;p15) [19]/ 46, idem, t(2;10)(q22;q26) [1] [1st relapse]
46, XX [9]/ 46, XX, t(7;11)(p15;p15) [5] [partial remission, Sep/1993], 46, XX [3]/ 46, XX, t(7;11)(p15;p15) [4]/ 46, idem, t(9;22)(q34;q11) [4]/ 46, idem, add(12)(p12) [1] [2nd relapse, Nov/1993]
acute myeloblastic leukemia - M2, myelofibrosis p15.2   HOXA9_exon1   8353806, 7723398, 8563754, 8563753, 11830496 21 (case 2) [8353806], patient 4 [8563754], J [8563753, 11830496] NUP98/HOXA9 fusion; Mitelman Database, Reference No. 5958 Edit
459 738728_12251 46, XY, t(7;11)(p15.2;p15.2) spontaneous abortion p15.2       738728 12251   Edit
460 8563754_1 t(7;11)(p15;p15) acute myeloid leukemia p15.2   HOXA9_exon1   8563754 patients 1 NUP98/HOXA9 fusion; Mitelman Database Reference No. 6202 Edit
461 9815935_T26_2 LOH(7) prostate cancer p15.2   D7S435   9815935 T26   Edit
462 9815935_T47 LOH(7p) prostate cancer p15.2   D7S435   9815935 T47 no 7q alterations Edit
463 MCN_19840002-004 46, XX, inv(7)(p15.2q33) mat facies significantly abnormal, mental retardation, webbed neck/excess skin/cystic hygroma, abnormal ear shape/structure, coloboma of the eyelid, hearing abnormal congenital/a cquired, abnormally placed nipples, short stature - postnatal p15.2 q33     MCN ID: 19840002-004 www.mcndb.org Edit
464 MCN_19970006-281 46, XY, inv(7)(p15.2q35) Infertility p15.2 q35     MCN ID: 19970006-281 www.mcndb.org Edit
465 MCN_19960009-281 46, XX, inv(7)(p15.2q33) hypogonadism/d elayed puberty, hypogonadotrophic hypogonadism, hearing abnormal congenital/a cquired, short stature - postnatal p15.2 q33     MCN ID: 19960009-281 www.mcndb.org Edit
466 12850374_2 46, XX, der(7)t(7;21)(p11-12;q11-21), t(7;17)(p15;q12), r(8), der(13)del(13)(?q12q14)del(13)(?q22) low-grade malignant endometrial stromal sarcoma, lung metastases p15.2 p11 - 12 JAZF1_exon3   12850374 2 JAZF1/JJAZ1 fusion; Mitelman Database, Reference No. 10210 Edit
467 10583265_1_2 46, XY, t(7;11)(p15;p15) MDS-chronic myelomonocytic leukemia p15.2   HOXA13_Int1_Ex2   10583265, 11830496 patient 1 [10583265], patient S [11830496] double-chimeric transcripts:NUP98/H OXA9 and NUP98/HOXA13 fusions; Mitelman Database, Reference No. 9635, 9742 Edit
468 10583265_1_1 46, XY, t(7;11)(p15;p15) MDS-chronic myelomonocytic leukemia p15.2   HOXA9_exon1   10583265, 11830496 patient 1 [10583265], patient S [11830496] double-chimeric transcripts:NUP98/H OXA9 and NUP98/HOXA13 fusions; Mitelman Database, Reference No. 9635, 9742 Edit
469 10583265_2 46, XX, t(7;11)(p15;p15) MDS-refractory anemia with excess of blasts in transformation p15.2   HOXA9_exon1   10583265 patient 2 Mitelman Database, Reference No. 9635 Edit
470 11241795_97-0583 46, XX, t(7;11)(p15;p15), t(9;22)(q34.1;q11.2) [20] [at diagnosis]
46, XX, t(9;22)(q34.1;q11.2) [22] [at remission]
46, XX, t(7;11)(p15;p15), t(9;22)(q34.1;q11.2) [15]/ 46, idem, i(17)(q10) [4]/ 46, idem, add(21)(q22) [1] [at relapse]
chronic myeloid leukemia p15.2   HOXA9_exon1   11241795 97-0583 NUP98/HOXA9 fusion; Mitelman Database, Reference No. 8906 Edit
471 10221343_1 46, XY, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15.2   HOXA9_exon1   10221343 1 NUP98/HOXA9 fusion Edit
472 10221343_3 46, XX, t(7;11)(p15;p15) [assumed karyotype] acute myeloblastic leukemia - M1 p15.2   HOXA9_exon1   10221343 3 NUP98/HOXA9 fusion; Mitelman Database, Reference No. 7949 Edit
473 9074407_1 46, XX, del(5)(q31q35), der(11)t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15.2   HOXA9_exon1   9074407 1 NUP98/HOXA9 fusion; Mitelman Database, Reference No. 6990 Edit
474 9074407_4 46, XX, t(7;11)(p15;p15) acute myelomonocytic leukemia - M4 p15.2   HOXA9_exon1   9074407 4 NUP98/HOXA9 fusion; Mitelman Database, Reference No. 6990 Edit
475 10565304 46, XY, t(7;11)(p15;p15) [16]/ 46, XY [5] chronic myelomonocytic leukemia p15.2   HOXA9_exon1   10565304   NUP98/HOXA9 fusion; Mitelman Database, Reference No. 8291 Edit
476 Yenamandra_ASHG2004 46, XX, del(7)(p14.3p15.2) IUGR, mild dysmorphic features, growth and developmental delay, patent ductus arteriosus, bilateral vesicoureteral reflux, partial syndactyly of 2-4 toes p15.2 p14.3       dizygous twin brother was unremarkable; Yenamandra et al., ASHG 2004, Program #956 Edit
477 15674412_18 46, XY, inv(7)(p15q34) [20] T cell acute lymphoblastic leukemia p15.2 q34 RP11-1132K14 RP11-785K24/ RP11-701D14 15674412, 16673021, 17039236 18 [15674412, 16673021], 6 [17039236] partial deletion of the centromeric TCRβ probe in 96% of cells was observed; breakpoint at 7p15 is within a ~20kb segment located between HOXA5 and HOXA9; Mitelman Database Reference No. 10935 Edit
478 15043312 4?, X?, t(7;17)(p15;q21) [cryptic] endometrial stromal sarcoma or endometrial stromal nodules p15.2   JAZF1_exon3   15043312 4 cases of ESS and one of ESN JAZF1-JJAZ1 fusion transcripts were detected by RT-PCR Edit
479 15108196_36_1 rev ish dim(7p14p15) de novo [inv(7p) was detected by PCR] mental retardation, speech delay, malformed ears, small downslanting palpebral fissures, hypermetropia(+6), broad neck, short extremities, short fingers, clinodactyly of 5th fingers, short toes, pes planus p15.2 p14.2 rs6946110/ rs6965433 rs2541905/ rs2592858 15108196, 15378350 case 36 [15108196], case 2 [15378350] distal breakpoint of inversion disrupted HDAC9; 8-bp deletion in inversion breakpoint at 7p21.1 Edit
480 16049311 4?, X?, t(7;17)(p15;q21) endometrial stromal sarcoma p15.2   JAZF1_exon3   16049311 16 cases 16 out of 20 cases (80%) had JAZF1/JJAZ1 fusion gene Edit
481 Shetty_ASHG205_1 46, XX, t(7;8)(p15.2;q11.2)del(7)(p21p21) de novo [refined by FISH] craniosynostosis, trigonocephaly and brachiocephaly, short upslanting palpebral fissures, short nose with broad nasal bridge & anteverted nares, mild micrognathia, small simple ears with deep concha, broad full lips with a tented upper lip, anteriorly placed anus, bilateral proximally-placed thumbs and toes p15.2         Shetty et al., ASHG 2005, Program #864 Edit
482 12676784_3749 46, XY, t(7;14)(p15;q11), t(10;11)(p13-14;q14-21), add(18)(q23) [11]/ 46, XY [9] T-cell acute lymphoblastic leukemia p15.2   rs12666919/ rs12666926   12676784, 16572206 UPN 3794 [12676784] breakpoint at 7p15 was located between HOXA7 & HOXA6; this patient also had CALM-AF10 fusion Edit
483 15774621_TL43 46, XY, t(7;7)(p15;q34) [3]/ 46, XY [6] T-cell acute lymphoblastic leukemia p15.2 q34 rs17501049/ rs17472196 TRBD1/ TRBJ2-7 15774621, 17039236 TL43 [15774621], 11 [17039236] breakpoint at 7p15 lies in intron 1b of HOXA9; two breakpoints at 7q34 lie in TRBD1 and TRBJ2-7 Edit
484 15774621_TL44 inv(7)(p15q34) or t(7;7)(p15;q34) T-cell acute lymphoblastic leukemia p15.2 q34 HOXA10 CTD-3092H9/ RP11-368I15 15774621, 17039236 TL44 [15774621], 12 [17039236] breakpoint at 7p15 lies in at 3-prime end HOXA10 Edit
485 15774621_TL45 46, XX, inv(7)(p15q34) [9] T-cell acute lymphoblastic leukemia p15.2 q34 HOXA10 CTD-3092H9/ RP11-368I15 15774621, 17039236 TL45 [15774621], 13 [17039236] breakpoint at 7p15 lies in at 3-prime end HOXA10 Edit
486 15774621_TL46 46, XY, inv(7)(p15q34) or t(7;7)(p15;q34) T-cell acute lymphoblastic leukemia p15.2 q34 RH80053 TRBD1/ TRBD2 15774621, 17039236 TL46 [15774621], 14 [17039236] breakpoint at 7p15 lies in at 3-prime end HOXA10; two breakpoints at 7q34 lie in TRBD1 and TRBD2 Edit
487 17039236_2 46, XX, add(6)(qter), inv(7)(p15q34) [20] T-cell acute lymphoblastic leukemia p15.2 q34 HOXA9 TRBJ2-7 17039236 2 breakpoint at 7p15 lies in intron 1A of HOXA9 Edit
488 17039236_10 46, XY, r(7), inc [14]/ 46, XY [7] T-cell acute lymphoblastic leukemia p15.2 q34 RP11-163M21/ RP11-1025G19 RP11-1220K2/ RP11-556I13 17039236 10 triplication of TCRβ and HOXA loci on r(7) Edit
489 16804919_1 46, X, -Y, del(5)(q14q31), add(7) (p15), del(11)(q13), add(14)(q32), del(15)(q24), +mar1 [16]/ 46, XY [10] [t(7;14;15) was detected] T-cell acute lymphoblastic leukemia p15.2   HOXA13/ EVX1$   16804919 patient 1 breakpoint at 7p15 is located 21 kb upstream of HOXA13 Edit
490 15774621_TL84 t(7;?)(p15;?) T-cell acute lymphoblastic leukemia p15.2       15774621, 16804919 TL84 [15774621], patient 2 [16804919] breakpoint at 7p15 presumably lies centromeric to HOXA13; no involvement of TCRB (7q34) or BCL11B (14q32.2) Edit
491 9520255 46, XY, del(7)(p13p15.1) de novo Greig syndrome, developmental delay, facial dysmorphism, polydactyly & syndactyly of the hands & feet, bilateral esotropia, omphalocele, dysgenesis of the corpus callosum, ventriculomegaly [detected by CT] p15.1 p13     9520255   GLI3 deleted Edit
492 4045964 46, XY, del(7)(p13p15.1) de novo psychomotor retardation, asymmetrical skull, bifid thumbs and right toe, pyloric adenomyosis, hypospadias, simian creases p15.1 p13     4045964, 7521123, 9520255, 12548740 case 4 [7521123], case 12 [12548740]   Edit
493 ECACC_93102908 46, XX, inv(7)(p15.1q11.23), dup(15)(q11.2q13) phenotypically normal; mother of mentally retarded boy with dup(15) p15.1 q11.23     93102908 (cell line: BO0812) www.ecacc.org.uk; data unpublished Edit
494 2260606 46, XX, t(5;7)(q33.1;p15.1) de novo Cohen syndrome (hypotonia, obesity), multiple congenital anomalies, mental retardation, microcephaly, seizures p15.1       2260606 VDHC, MCN ID: 19890001-008 normal sister; www.mcndb.org Edit
495 1895319_D3_2 46, XY, ins(7)(p15.1q11.21q11.23)del(7)(q21.2q22.1) de novo bilateral split hand/split foot, malformed ears, hyperterolism, mildly delayed speech, full-scale IQ of 84 p15.1       1895319, 8023840, 7987313, 7616545, 8782053, 15692208, 15732063 D3 [8023840, 7987313], ref. 10 [8782053]   Edit
496 1863992_mother 46, XX, inv(7)(p15.1q36) mat? phenotypically normal p15.1 q36     1863992 mother (II-20) mother of 1863992_proband; siblings (II-19, 21, 22) had multiple anomalies Edit
497 DGAP070 46, XY, t(7;15)(p15.1;q22.1) myelomeningocele and ventricular septal defect p15.1       DGAP070 http://www.bwhpathology.org/d gap/ Edit
498 11005146_1 45, XY, psu dic(22;7)(p13;p22.3) del(7)(p11.2p15.1) de novo craniosynostosis, bilateral cataracts, dysmorphic facies, bilateral syndactyly of the 2nd and 3rd toes, board adducted thumbs, developmental delay, hypostasis p15.1 p11.2     11005146, 12548740 case 22 [12548740]   Edit
499 10495929_t(1;7) 46, XY, t(1;7)(p34.1;p15.1) mental retardation p15.1       10495929 in Table 1   Edit
500 ECACC_92082715_2 46, XY, ?ins(7)(p15.1;q11.21q11.23)?del(7)(q21.3) split hands p15.1       92082715 (cell line: QQ0486) www.ecacc.or.uk Edit
501 ECACC_93102907 46, XX, inv(7)(p15.1;q11.23)dup(15)(q11.2q13)(?) phenotypically normal; mentally retarded son has dup(15)(q11.2q13) p15.1 q11.23     93102907 (cell line: DD1566) www.ecacc.or.uk Edit
502 9806579_inv(7) 46, XX, inv(7)(p15.1p22) infertility, candidate for intracytoplasmic sperm infection p15.1 p22     9806579 inv(7), MCN ID: 19980033-999 www.mcndb.org Edit
503 2431619_441 46, XY, del(7)(p13p15.1) phenotype not given p15.1 p13     2431619 cell line 441 cell line from UCSF Prenatal Detection Program Edit
504 7736796_3 46, XY, t(5;7)(q13;p15.1) phenotypically normal; wife had two miscarriages p15.1       7736796, 10196708 subject 3 [7736796]   Edit
505 MCN_20020008-210 46, XX, del(7)(p13p15.1) de novo facies significantly abnormal, simian creases, abnormal cardiovascular structure/function, prenatal diagnosis, polydactyly of feet - postaxial/type unspecified p15.1 p13     MCN ID: 20020008-210 www.mcndb.org Edit
506 15635069_B1 46, XY, t(2;7)(q37.3;p15.1) de novo. ish t(2;7)(680O16sp; CTA-471E18sp), dup(3)(p36.3p36.3)(299N3++, 95E11++,10H6++). mild generalized developmental delay, mental retardation, slightly beaked nose, adducted thumbs, brachycephaly, blepharophimosis, medially flared eyebrows, broad nasal tip, short philtrum, thin upper lip, prominent lower jaw p15.1   CTA-471E18   15635069 B1 [15635069], MCN ID: 19990003-002 www.mcndb.org Edit
507 MCN_19990028-292_1 46, XY, t(5;6)(q23.2;p12), ins(7)(p15.1q21.3q31.3) mental retardation, abnormal ear shape/structure, hearing abnormal congenital/a cquired, micrognathia/a gnathia total/retrognathia p15.1       MCN ID: 19990028-292 www.mcndb.org Edit
508 MCN_19900001-010 46, XY, t(3;7)(q29;p15.1) pat thick lips, facies significantly abnormal, mental retardation, cataract, epicanthus inversus, paresis of ocular muscles/squint, hypotonia p15.1       MCN ID: 19900001-010 www.mcndb.org Edit
509 MCN_20020002-308 46, XY, t(3;7)(q26.2;p15.1) de novo mental retardation, gynaecomastia/b reast enlargement, hearing abnormal congenital/a cquired, visual loss - severe, small for gestational age (IUGR), synophrya/medial extension of eyebrow, seizures p15.1       MCN ID: 20020002-308 reported in Tonk et al. Am J Hum Genet. 2002;71(4):289, Program #741; www.mcndb.org Edit
510 MCN_19870001-248 46, XY, t(6;7)(q22.32;p15.1) macrocephaly, mental retardation, anodontia/oligodontia, frontal bossing, large mouth/macrostoma/l ateral cleft, lnguinal hernia p15.1       MCN ID:19870001-248 www.mcndb.org Edit
511 MCN_19860006-089 46, XX, t(7;14)(p15.1;q22) de novo facies significantly abnormal, behaviour disorder/hyperactivity/p sychosis p15.1       MCN ID: 19860006-089 www.mcndb.org Edit
512 2713271 46, XY, t(7;11)(p15.1;p15.5) acute myelomonocytic leukemia - M4 p15.1       2713271, 8353806, 8563754 16 [8353806], patient 3 [8563754] Mitelman Database, Reference No. 3131 Edit
513 15039973_DD9904550 46, XY, t(2;7)(q37.3;p15.1) de novo abnormal phenotype p15.1       15039973 DD9904550   Edit
514 18483359_1 arr 7p15.1(27,845,626-30,383,3 60)x3 metastatic melanoma p15.1 p15.1     18483359   observed in 27.3% of 19 patient samples; 2.5 Mb gain encompasses JAZF1, CHN2 Edit
515 3237228_2 46, XY, del(7)(p13p15) de novo craniosynostosis, intrauterine growth retardation, mental retardation, psychomotor retardation, plagioturricephaly, osseous defects of the parietal bones, short fingers, proximally Implanted thumbs, microphthalmia, congenital heart defect, hydronephrosis, cryptorchidism p15 p13     3237228, 7521123, 9520255, 12548740 Fall 2 [3237228], d [7521123], case 10 [12548740]   Edit
516 7296937_1 46, XX, del(7)(p13p15) de novo developmental retardation, blepharophimosis, mild hypertelorism, prominent forehead with ridged betopic suture (normal head circumference), small low set ears, bifid right toe p15 p13     7296937, 1519644, 7521123, 9321768, 9520255, 12548740 case 1 [7296937, 12548740], case 6 [7521123]   Edit
517 7296937_2 46, XX, del(7)(p13p15) blepharophimosis, epicanthal folds, widely spread nipples, enlarged clitoris, very large hands and feet, normal growth and head circumference p15 p13     7296937, 1519644, 7521123, 9520255, 12548740 case 2 [7296937, 12548740], case 7 [7521123]   Edit
518 11417483_30 46, XY, del(7)(p12p15) [28] myelodysplastic syndrome p15 p12     11417483 30   Edit
519 ECACC_93071611 46, XX, t(7;16)(p15;q22) mat recurrent abortion p15       93071611 (cell line: DD1407) daughter of ECACC_93091758 (DD1496); www.ecacc.or.uk Edit
520 3359679_C 46, XX, t(7;18)(p15;p11) mat spontaneous abortions p15       3359679 C.II.4, Family C mother and two siblings had same translocation Edit
521 Schmidt_1987 4?, X?, der(9)t(7;9)(p15;p?) mat dolichocephalus, delayed closure of fontanels, high forehead, hypertelorism, microphthalmia, low-set ears with malformed auricles, low & broad nasal bridge, micrognathia, short neck, hypotonia, cardiac defects, simian crease p15       2692511, 10494083 case 4 [2692511], case 23 [Table 2, 10494083] trisomy of 7p15-pter; Schmidt & Gillessen-Kaesback, 1987, Ann Univ Sarav Med Suppl 7:271-272 Edit
522 2558067_BS 46, X, der(X)t(X;7)(q28;p15) de novo scaphocephaly, dysmorphic features, slight hypertelorism, hypotonic, severely retarded, high arched palate p15       2558067, 10494083 BS [2558067], case 25 [10494083] trisomy of 7p15-pter Edit
523 489013_2 46, XX, t(1;7)(p22;p15)del(7)(p15) craniosynostosis, marked turricephaly, hypotelorism, deeply cleft palate, shallow orbits with prominent bulgind eyes, a depressed nasal bridge, anteverted nostrils, short hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15       489013, 3874588, 4043965, 1519644, 7521123, 12548740 case 22 [7521123], 5 [12548740]   Edit
524 490588_1 46, XX, Gq+ [assumed: der(22)t(7;22)(p15;q13) pat] hypotonic, microphthalmos, micrognathia, systolic murmur, skeletal abnormalities, failure to thrive, hydrocephalus, microgyria, aortic stenosis, cystic kidneys; died aged 8 weeks p15       490588, 7083611, 2679090, 2692511, 2363431 case 1 (PRU 3373) [490588], case 10 [2692511] trisomy of 7p15-pter; father had balanced t(7;22); sister of 490588_2 Edit
525 490588_2 46, XY, der(22)t(7;22)(p15;q13) pat high arched palate, severely retarded, no speech p15       490588, 7083611, 2363431, 2679090, 2692511, 10494083 case 2 [490588], case 11 [2692511], case 20 [10494083] trisomy of 7p15-pter; father had balanced t(7;22); brother of 490588_1 Edit
526 3777028 46, XX, t(1;6;7;3;11)(11;22;21)(1qter->1p22::11p15-> 11pter; 6qter-> 6p21:: 1p22->1pter; 7qter-> 7p15:: 6p21-> 6pter; 3pter-> 3q27::7p15-> 7pter; 3qter-> 3q27 :: 11p15 -> 11q11::21q11-> 21qter; 22qter -> 22p11:11q11 -> 11qter; 21pter-> 21q11::22p11-> 22pter) de novo sclerocornea, corneal staphyloma, microcephaly, hirsutism, prominent ears with hypoplastic helix, retrognathia, wide-set nipples, hypoplastic thumbs, fifth finger clinodactyly, ectrodactyly of the left foot p15       3777028, 1327590 KCMC-90261   Edit
527 6678317_1 46, XY, der(11)t(7;11)(p15;q25) mat pyschomotor retardation, growth retardation, wide anterior fontanel, left esotropia, sacral dimple, bilateral undescended testis p15       6678317, 2679090, 8839888, 10494083 case 1 [6678317], Ref. 17 [8839888], case 22 [10494083] trisomy of 7p15-pter; mother had balanced t(7;11) Edit
528 6678317_2 46, XX, der(11)t(7;11)(p15;q25) mat no marked abnormalities except for micrognathia p15       6678317, 2679090, 8839888, 10494083 case 2 (aborted fetus) [6678317], Ref. 17 [8839888], case 22 [10494083] trisomy of 7p15-pter; mother had balanced t(7;11) Edit
529 7083611_2 46, XX, der(21)t(7;21)(p15;p12) mat severe developmental retardation, distinctive facies, large anterior fontanel, low-set ears, heart murmur, feeding problems p15       7083611, 7083611, 2679090, 2692511, 2363431, 10494083 case 2 (Erlangen) [7083611], case 9 [2692511], case 21 [10494083] trisomy of 7p15-pter Edit
530 7656202_1 46, XY, t(7;11)(p15;p15)
46, XY, t(5;7)(7;11)(q33;q11.2p15;p15) appreared when eosinophilia began
46, XY, t(5;14)(q33;q32), t(7;11)(p15;p15) appeared two months later
acute myelobalastic leukemia - M2 with translocation p15       7656202   Mitelman Database, Reference No. 6067 Edit
531 8741912 46, XX, der(20)t(7;20)(p15;q13.3) de novo multiple congenital anomalies, systolic heart murmur, rectoperineal fistula and imperforate anus, hip dislocation, patent ductus arteriosus, neural and conductive hearing loss p15       8741912, 10494083 case 29 [10494083] trisomy of 7p15-pter Edit
532 8839888 46, XY, der(8)t(7;8)(p15;p22) de novo psychomotor retardation, multiple congenital anomalies, hypertelorism, large floppy low-set ears with hypoplastic antelix, elongated philtrum, high palate, asymetrical hemithorax due to right convex scoliosis, pigeon-chest and hunch-back, abnormal position of the 4th and 5th toes bilaterally and equino-vari feet, cryptorchidism with hypoplasia of the external genitals, retarded bone age p15       8839888, 10494083 CS [8839888], case 28 [10494083] trisomy of 7p15-pter Edit
533 10766985 46, XX, der(9)t(7;9)(p15;p24). ish der(9)t(7;9)(wcp7+, wcp9+) high/large forehead, hypertelorism, braod nasal bridge, hypothyroidism, obesity, cerebral palsy p15       10766985   trisomy of 7p15-pter Edit
534 11371647_LU-550 46, XX, t(7;17)(p15;q21) endometrial stromal tumor p15       11371647, 12850374 LU-550 [11371647], 21 [12850374] Mitelman Database, Reference No. 9086 Edit
535 Unpublished_38 46, XX, t(7;8)(p15;q22) facial asymmetry, low frontal hairline, ptosis, possible craniosynostosis p15       38 data unpublished Edit
536 Willner_1977 4?, X?, der(5)t(5;7)(q?;p15) pat asymmetry cranium, delayed closure of fontanels, hypertelorism, low-set ears, choanal atresia, micrognathia, malposition of feet, arachnodactyly, contractures of fingers joints p15       2692511, 10494083 case 8 [2692511], case 19 [Table 2, 10494083] trisomy of 7p15-pter; Willner et al., 1977, Pediatr Res 11(?):530 Edit
537 MCN_19760001-086 46, XX, t(7;22)(p15;q12) abnormal skull, abnormal plantar creases, low set ears, micrognathia/a gnathia total/retrognathia p15       MCN ID: 19760001-086 www.mcndb.org Edit
538 8527384_7_3 46, XX, del(7)(q11.2q32), der(7)del(7)(q11.2)inv(7)(p15q11.2) uterine leiomyoma p15 q11.2     8527384 7   Edit
539 8527384_10_2 46, XX, der(7)del(7)(q21q31)inv(7)(p15q32) uterine leiomyoma p15 q32     8527384 10   Edit
540 Unpublished_14298 46, XY, inv(7)(p15q36) mat cerebral infarct p15 q36 AC004549   12690205 14298 phenotypically normal mother and maternal aunt had same inversion and multiple miscarriags/M CA Edit
541 8389614_5 4?, X?, t(7;11)(p15;q23) acute megakaryoblastic leukemia - M7 p15       8389614 5th case in Table 1   Edit
542 12203776_6 46, XX, t(9;22)(q34;q11) [3]/ 46, idem, t(7;17)(p15;q23) [10] chronic myeloid leukemia, accelerated phase p15   HOXA9_exon1   12203776, 12649177 6 [12203776], 1 [12649177] Mitelman Database, Reference No. 9703 & 10009 Edit
543 2158398_15 45, XY, del(7)(p15), -10, +12, der(16)t(10;16)(q22;q12), -22 Wilms tumor p15 qter     2158398 15   Edit
544 12152163_CAOV3_2 +1p, +1q21, -1q23-q32, +1q42, +2p25-q21, +3p, -3p21-p22, -4p12-p13.5, -4q21-qter, +5q13-pter, -5q11.2-q12, +6p23-q12, -6q21-qter, -7p21, +7p15-qter, -9p21-pter, -9q13-q22, +10, -11p12-pter, +11q12-q14, -11q23-qter, +12p12-pter, +12q24.2-q24.3, -13q, +14q24-qter, +15q23-qter, -16p12-p13.1, -16q13-q24, -17p13-q12, +17q21-qter, +18p11.2-pter, -18q12-qter, +19q13.2-qter, +20p11.2-qter, -21q21, +22q [CGH] serous ovarian carcinoma p15 qter     12152163 CAOV3   Edit
545 Unpublished_H8836 46, XY, t(7;18)(p15;q21) phenotype not given p15   D7S2041E/ ADCYAP1R1$   H8836 somatic cell hybrid clone H8836 RAG 11-19; source: www.uni-marburg.de/h umgen; data unpublished Edit
546 11455985_9_1 44, XX, -5, der(6)t(6;7)(p23;q22), -7, der(7)t(5;7)(q?13;p15)t(5;13)(q?33;q?22), del(10)(p12p15), der(12)del(12)(p12p13)t(10;12)(p12;q24), der(13)t(5;13)(q?33;q22) [2]/ 43, idem, inv(X)(p11q23), der(6)t(6;15)(p21;q11), -15 [7] acute myelomonocytic leukemia - M4 p15 q22     11455985 9 Mitelman Database, Reference No. 9187 Edit
547 10534769_10_2 43-44, XY, der(3;16)(p10;p10), -5, -6, del(7)(q31), der(7)t(6;7)(q21;p15), der(12)t(3;12)(q21;q22), t(12;18)(q21;q23), +der(16)t(12;16)(q22;q10) [revised based on SKY] refractory anemia with excess of blasts in transformation p15       10534769 10 Mitelman Database, Reference No. 8242 Edit
548 6722761_4 46, XX [1]/ 45, XX, -4, -18, t(7;12)(p15;p13), +ring [6]/ 44, XX, -4, -18, del(5)(q13q33), t(7;12)(p15;p13) [5]/ 43, XX, -4, +9, -14, -18, -20, del(5)(q13q33), t(7;12)(p15;p13) [8] non-Hodgkin's lymphoma, therapy-related acute myeloid leukemia p15       6722761 4 Mitelman Database, Reference No. 1063 Edit
549 3478104_1_1 46, XX, t(7;11)(p15;p15) [80%]/ 46, XX [20%] [05/1985: peripheral blood]
46, X, t(X;13)(p21;p13), -21, del(6)(q23), t(7;11)(p15;p15), +der(21)t(21;?)(q22;?) [12]/ 46, XX, -21, del(7)(p12), del(11)(p14), del(15)(q15), t(2;9)(q13;q34), +der(21)t(21;?)(q22;?) [9]/ 46, XX [8] [09/1985: bone marrow]
46, X, t(X;13)(p21;p13), -21, del(6)(q23), t(7;11)(p15;p15), +der(21)t(21;?)(q22;?) [16]/ 46, X, t(X;13)(p21;p13), -21, t(3;20)(q25;q12), t(7;11)(p15;p15), +der(21)t(21;?)(q22;?) [3]/ 46, XX [1] [02/1985: bone marrow]
acute myeloblastic leukemia - M2 p15       3478104, 8353806 1 [3478104], 8 [8353806] Mitelman Database, Reference No. 2250 Edit
550 3478104_2 46, XY, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15       3478104, 8353806 2 [3478104], 9 [8353806] Mitelman Database, Reference No. 2250 Edit
551 3478104_3 46, XX, t(7;11)(p15;p15) [44.4%]/ 46, XX [55.6%] acute myeloblastic leukemia - M2 p15       3478104, 8353806 3 [3478104], 10 [8353806] Mitelman Database, Reference No. 2250 Edit
552 3478104_4 46, XX, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15       3478104, 8353806 4 [3478104], 11 [8353806] Mitelman Database, Reference No. 2250 Edit
553 3478104_5 46, XY, t(7;11)(p15;p15) [03/1985]
46, XY, t(7;11)(p15;p15) [04/1985]
acute myeloblastic leukemia - M2 p15       3478104, 8353806 5 [3478104], 12 [8353806] Mitelman Database, Reference No. 2250 Edit
554 3478104_6 46, XY, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15       3478104, 8353806 6 [3478104], 13 [8353806] Mitelman Database, Reference No. 2250 Edit
555 3478104_7 46, XY, del(6)(p21), t(7;11)(p15;p15) [69.8%]/ 46, XY [30.2%] acute myeloblastic leukemia - M2 p15       3478104, 8353806 7 [3478104], 14 [8353806] Mitelman Database, Reference No. 2250 Edit
556 3478104_8_2 46, XY, del(7)(q32q35), t(7;11)(p15;p15) [78.1%]/ 46, XY [21.9%] acute monoblastic leukemia - M5b p15       3478104, 8353806 8 [3478104], 19 [8353806] Mitelman Database, Reference No. 2250 Edit
557 3478104_9 46, XX, t(9;22)(q34;q11) [07/82:bone marrow]
47, XX, t(9;22)(q34;q11), t(7;11)(p15;p15), +Ph1 [37]/ 47, XX, t(9;22)(q34;q11), t(7;11)(p15;p15), +8 [14]/ 47, XX, t(9;22)(q34;q11), t(7;11)(p15;p15), +8, +Ph1 [5]/ 47, XX, t(9;22)(q34;q11), t(7;11)(p15;p15) [4] [11/1986: peripheral blood]
chronic myeloid leukemia, blastic crisis p15       3478104, 8353806 8 [3478104], 4 [8353806] Mitelman Database, Reference No. 2250 Edit
558 6498788_5 46, XX, t(7;11)(p15;p15) acute myeloblastic leukemia - M1 p15       6498788, 3478104, 8353806 5 [6498788], 10 [3478104], 7 [8353806] Mitelman Database, Reference No. 1179 Edit
559 3864754 46, XX, t(7;11)(p15;p15) chronic myeloid leukemia, blastic crisis p15       3864754, 3471306, 3478104, 8353806 Ref. 7 [3471306], 13 [3478104], 3 [8353806] Mitelman Database, Reference No. 1588 Edit
560 6683201 46, XX, inv(7)(p15q22) mat three consecutive spontaneous abortions p15 q22     6683201, 4040824, 3491573, 3770747, 3546078 case 1 [3770747], ref 34 [3491573] mother had same inversion and three spontanious abortions out of six pregnancies Edit
561 8938443_6_1 46, XY, der(1)t(1;7)(p36;p15), del(4)(q31), del(7)(p12)x2, add(7)(p15), -15, der(16)t(1;16)(q21;q13) Wilms tumor p15       8938443 case 6 (W36)   Edit
562 10980571_6 46, XX. rev ish dim(7p15p15) dysmorphic figures, congenital malformation, no details given p15 p15 rs13230965/ rs1858936 rs1181661/ rs11972917 10980571, 11694545, 15108196, 15378350 case 6 [10980571], case 5 [11694545], case 35 [15108196], case 1 [15378350] 6-bp insertion between the breakpoints Edit
563 9186513_RL 46, XY, t(7;17)(p15;q24)de novo lymphoma p15       9186513 RL [9186513], MCN ID: 19900008-047 phenotypically normal male translocation carrier identified in a fragile X family; www.mcndb.org Edit
564 2253189_4 43-44/83-88. 42, XY, -1, -10, -11, -12, -14, -19, +del(1)(q21), del(7)(p11p15), del(14)(q11q24), +der(11)t(11;14)(p15;q24), +der(14)t(4;14)(q21;q32)/ 46, XY Sezary syndrome p15 p11     2253189 4 (CG5088)   Edit
565 3490211_10 4?, X?, t(1;13)(1qter>1p34::13q12>13qter), del(1)(q11), del(3)(p14), del(6)(q?15), t(7;7)(7q36>7p15::7q22>7q36), t(1;9)(9pter>9q34::1q11>1qter), t(?1;11)(11qter>11p15::1q32>1qter), t(14;?), i(17q) and some unidentified [not fully karyotyped] non-Hodgkin's lymphoma: follicular, mixed cell p15 q22     3490211 10   Edit
566 3315191_N29 45, X, -X, -2, add(4)(q35), -6, add(7)(p15), add(8)(q24), add(9)(p24), add(11)(q25), add(14)(p13), -17, add(18)(q23), add(19)(q13), del(22)(q11), +3mar [11] diffuse large B-cell lymphoma p15       3315191 N29 Mitelman Databaase, Reference No. 2345 Edit
567 3315191_N62 48, XY, del(6)(q15), +add(7)(p15), t(8;14)(q24;q32), -16, +21, +r [8] peripheral B-cell lymphoma, NOS p15       3315191 N62 Mitelman Databaase, Reference No. 2345 Edit
568 7039815_3 46, X, -X, -4, del(7)(p13p15), add(11)(q25), i(17)(q10), +18, der(19)t(4;19)(p11;q13), +mar [11] diffuse large B-cell lymphoma p15 p13     7039815, 3315191, 2253189 3 [7039815, 3315191], reference 6 [2253189] Mitelman Database, Reference No. 2345 Edit
569 6467179_20 48, XY, del(1)(q32q42), +der(1)t(1;3)(p12;q12), t(2;3)(p11;q12), del(4)(q21q2?3), +del(5)(q31q33), i(6)(p10), del(7)(p11.2p15), der(12)t(12;14)(p13;q22), i(18)(q10) diffuse large B-cell lymphoma p15 p11.2     6467179, 2253189 20 [6467179], reference 11 [2253189] Mitelman Databaase, Reference No. 1090 Edit
570 3169734_2 46, XY, t(7;11)(p15;p15) acute myeloid leukemia p15       3169734 L-329   Edit
571 6467179_39 48, XX, dup(1)(q23q32), t(2;19)(p15p23;q13), +3, inv(7)(p15q11), +18, del(19)(q13) peripheral B-cell lymphoma, NOS p15 q11.2     6467179 39 Mitelman Databaase, Reference No. 1090 Edit
572 ECACC_93093011 46, XX, t(7;18)(p15;q2) Saethre-Chotzen syndrome p15       93093011 (cell line: AE0023) www.ecacc.or.uk Edit
573 11066076_5_3 47, XY, t(7;12)(q36;p13), +der(19) [3 mo]
49, XY, ins(7)(p11p15q34?), +8,+19,+22 [12 mo, relapse]
acute myeloblastic leukemia - M0 p15 q34     11066076, 12939747 5 [11066076], 3 [12939747] Mitelman Database, Reference No. 8756 Edit
574 8353806_1 46, XY, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15       8353806 20 (case 1) [8353806] Mitelman Database, Reference No. 4983 Edit
575 12736870_1 46, X, t(X;7)(p22.3;p15)mat infantile spasms, motor retardation, profound mental retardation, generalized hypotonia, hypertelorism, high nasal bridge, abnormal ears, low posterior hairline, simian crease, hypsarrhythmia p15       12736870 patient 1   Edit
576 3479040_BDI40952 46, XX, inv(7)(p15q11) mat phenotype not given p15 q11     3479040 BDI 40952 amniocentesis was performed due to advanced maternal age Edit
577 3479040_BDI41003 46, XX, t(5;7)(?p13;p15)pat phenotype not given p15       3479040 BDI 41003 amniocentesis was performed due to advanced maternal age Edit
578 11807899_5 46, XX, del(7)(p13p15) mat polydactyly of the feet p15 p13     11807899 5 fetus, amniocentesis was done Edit
579 NIGMS_GM10951 46, XX, de(7)(p13p15) phenotype not given p15 p13     GM10951 fibroblast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
580 NIGMS_GM16717 46, XY, t(7;17)(p15;q24)de novo .ish t(7;17)(wcp7+, D17S928+, D7S589-; wcp7+, D17S928-, D7S589+) phenotypically normal p15 qter     GM16717 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
581 14999294_37 45, XY, t(1;11)(q21;p15), del(7)(p12p15), add(13)(q34), -20 acute lymphoblastic leukemia p15 p12     14999294 37 Mitelman Database, Reference No. 10554 Edit
582 10590047_16 44, XX, der(2)t(2;7)(q31;p15), -7, dic(9;16)(p2?2;p1?1), der(12)t(7;12)(q1?1;p11)/ 45, idem, +mar acute lymphoblastic leukemia p15 q11.2     10590047, 14999294 16 [10590047], 57 [14999294] monosomy of 7p15-q1?1.2; Mitelman Database, Reference No. 8391 Edit
583 10590047_11 34 <1n>, X, +1, +5, +6, inv(7)(p1?5q11.2), +8, +10, +11, +13, +14, +19, +21, +22/ 69 <3n>, XX, -X, +1, -2, -3, -4, +5, +6, inv(7)(p1?5q11.2), -9, +11, -12, +13, +14, -15, -16, -17, -18, +19, +20, +21, +22/ 46, XX acute lymphoblastic leukemia p15 q11.2     10590047 11 Mitelman Database, Reference No. 8391 Edit
584 9806664_19 46, XY, der(7)t(7;19)(p15;p13.1)t(7;22)(q11.2;q11), ider(9)(q10)t(7;9)(p15;q34), der(19)t(7;19)(q11.2;p13.1), der(22)t(9;22)(q34;q11) acute lymphoblastic leukemia p15 q11.2     9806664 19 Mitelman Database, Reference No. 7741 Edit
585 11920481_4 49, XY, +6, t(10;11)(p13;q13), add(19)(p13), +21, +21/ 46, XY, der(6)t(6;10)(q21;q11.2), der(7)t(7;15)(p15;q15), der(10)t(10;11)(q11.2;q12), del(11)(q12), del(12)(p11.2), add(15)(q?21), add(19)(p13) acute lymphoblastic leukemia p15       11920481, 14999294 4 [11920481], 48 [14999294] Mitelman Database, Reference No. 9557 Edit
586 1564964 46, XY [3]/ 46, XY, t(7;11)(p15;p15) [2]/ 45-46, XY, -7, der(11)t(7;11)(p15;p15)+/- mar [5] acute myeloblastic leukemia-M2 p15       1564964, 8353806 patient 15 [8353806] Mitelman Database, Reference No. 4349 Edit
587 8958330 46, XX, t(2;16)(q33;q24), inv(7)(p15q11.23) de novo [amniocentesis at 17 wks] intrauterine growth retardation [detected by ultrasound]; pregnancy was terminated p15 q11.23     8958330, 16470734 fetus maternal serum alfa-fetoprotein was elevated Edit
588 McGavran_ASHG1989 46, XY, t(2;16)(q13;q13), del(6)(p2?), ins(7)(p15), inv(8)(p12q24.3) mild learning disabilities, language delay, unusual facies, synophrys, low-set ears, bilateral absence of tear ducts, low posterior hairline, bilateral accessory nipples, mild hypotonia, normal IQ p15       7-year-old male Am J Hum Genet. 1989; 34:135A, #379 Edit
589 9552025_29 46, XX, del(6)(q2?q2?), add(7)(p15), del(9)(p13), -11, del(14)(q13q22), +mar acute lymphoblastic leukemia p15       9552025, 14999294 29 [9552025], 45 [14999294] Mitelman Database, Reference No. 7566 Edit
590 MCN_19990003-059 46, XY, inv(7)(p15q32) mat small for gestational age (IUGR), prenatal diagnosis p15 q32     MCN ID: 19990003-059 www.mcndb.org Edit
591 MCN_19930002-222 46, XX, del(7)(p11.2p15) macrocephaly, agenesis/hypoplasia of kidneys, simian creases, depressed nasal bridge, low set ears, hypotonia p15 p11.2     MCN ID: 19930002-222 www.mcndb.org Edit
592 MCN_19990007-227 46, XX .rev ish dim(7p15p15) de novo small hand, abnormal ear shape/structure, hypertelorism, frontal bossing, short foot (including brachydactyly), large fontanelle, retroverted ears, other clinodactyly of fingers, low set ears p15 p15     MCN ID: 19990007-227 www.mcndb.org Edit
593 MCN_19850002-128 46, XX, t(2;7;18)(p13;p15;q21) de novo mental retardation p15       MCN ID: 19850002-128 www.mcndb.org Edit
594 MCN_20010003-227 46, XY .rev ish dim(7p14p15) de novo facies significantly abnormal, mental retardation p15 p14     MCN ID: 20010003-227 www.mcndb.org Edit
595 MCN_19970160-224 46, XY, t(1;7)(p32;p15) mental retardation, low set ears p15       MCN ID: 19970160-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
596 MCN_19920001-041 46, XY, t(2;7)(q23;p15) Mental retardation of any degree, low hairline - back, abnormal ear shape/structure, epicanthic folds, hypertelorism, clinodactyly of 5th finger, low set ears, high vaulted and narrow palate p15       MCN ID: 19920001-041 www.mcndb.org Edit
597 MCN_19950001-089 46, XY, t(5;7)(q22;p15) de novo mental retardation, spinal neural tube defect/meningocele/s pine bifida p15       MCN ID: 19950001-089 www.mcndb.org Edit
598 MCN_19870003-068 46, XX, t(4;7)(q35;p15) de novo mental retardation p15       MCN ID:19870003-068 www.mcndb.org Edit
599 MCN_19970142-224 46, XY, t(7;8)(p15;q22) mental retardation, anteverted nostrils, structural asymmetry of face, hypertelorism, microcephaly, paresis of ocular muscles/squint, abnormal tooth position/malocclusion/o pen bite p15       MCN ID: 19970142-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
600 MCN_20000006-001 46, XY, t(7;11)(p15;p13) allergy, azoospermia/o ligospermia, myopia p15       MCN ID: 20000006-001 www.mcndb.org Edit
601 MCN_19960001-114 46, XY, t(7;11)(p15;q21) pat scaphocephaly/d olichocephaly, Saethre-chotzen p15       MCN ID: 19960001-114 www.mcndb.org Edit
602 MCN_19800002-035 46, XY, t(7;12)(p15;q24) pat hypogonadism/d elayed puberty, generalised obesity p15       MCN ID: 19800002-035 www.mcndb.org Edit
603 MCN_19990022-292 46, XY, t(7;13)(p15;q32) mental retardation, hypertelorism p15       MCN ID: 19990022-292 www.mcndb.org Edit
604 MCN_19970147-224 46, XY, t(7;13)(p15;q22) mental retardation, wasted/very thin build/FTT p15       MCN ID: 19970147-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
605 MCN_20010001-057 46, XX, t(2;7)(p13;p15) consanguineous marriage, microcephaly, speech defect, hearing abnormal congenital/a cquired, flat occiput (brachycephaly), short stature - postnatal p15       MCN ID:20010001-057 www.mcndb.org Edit
606 11371647_LU-954_1 45, XX, -7, t(7;17)(p15;q21) endometrial stromal tumor p15       11371647, 12850374 LU-954 [11371647], 22 [12850374] Mitelman Database, Reference No. 9086 Edit
607 12596070 46, XX, t(7;17)(p15;q11), del(9)(q22), add(19)(q13) endometrial stromal sarcoma, pulmonary metastases p15       12596070   Mitelman Database, Reference No. 10015 Edit
608 12596771 46, XX, der(7)t(7;13)(p15;q32), der(13)inv(13)(q12q32)t(7;13)(p15;q32) salivary gland basal cell adenoma p15       12596771   Mitelman Database, Reference No. 10019 Edit
609 14697643_16_1 46-48, X, del(X)(q22), t(1;7)(p22;p15), del(4)(q31), +7, +8, add(11)(p15), +12, del(14)(q22), add(15)(q24), add(16)(p13), add(17)(p12), -18, +20, -22 [cp19]/ 46, XX [1] Wilms tumor, stage IV p15       14697643 16 Mitelman Database, Reference No. 10418 Edit
610 12850374_4 46, XX, inv(2)(p21q37), der(6)t(6;7)(q21;p15)del(6)(p21), der(7)t(6;7)(?q12;p15) low-grade malignant endometrial stromal sarcoma, lung metastases p15       12850374 4 [in Addendum]   Edit
611 9826456_3_1 42-44, X, -X, der(2)t(2;7)(p23;p15)t(2;15)(q35;q15), add(4)(p16), del(7)(p13p15), der(7)t(7;17)(p14;q12), add(8)(q24), -10, del(11)(p11), t(11;13)(p15;q14), del(15)(q15), -16, del(17)(q12), der(18)t(16;18)(p11;p11), add(19)(p13), -20, add(21)(q22), -22, +2-3mar [15] /78-83, idemx2 [3] endometrial stromal sarcoma p15 p13     9826456, 12850374 3 [9826456], 14 [12850374] Mitelman Database, Reference No. 7996 Edit
612 9826456_3_2 42-44, X, -X, der(2)t(2;7)(p23;p15)t(2;15)(q35;q15), add(4)(p16), del(7)(p13p15), der(7)t(7;17)(p14;q12), add(8)(q24), -10, del(11)(p11), t(11;13)(p15;q14), del(15)(q15), -16, del(17)(q12), der(18)t(16;18)(p11;p11), add(19)(p13), -20, add(21)(q22), -22, +2-3mar [15] /78-83, idemx2 [3] endometrial stromal sarcoma p15 p14     9826456, 12850374 3 [9826456], 14 [12850374] Mitelman Database, Reference No. 7996 Edit
613 8563753_C 4?, X?, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15   HOXA9_exon1   8563753 patient C Mitelman Database, Reference No. 6201 Edit
614 8563753_RM 4?, X?, t(7;11)(p15;p15) acute myeloid leukemia p15   HOXA9_exon1   8563753 patient RM Mitelman Database, Reference No. 6201 Edit
615 1402666 46, XY, t(1;14)(p32;q11), inv(7)(p15q35) [11]/ 46, XY [28] T-cell acute lymphoblastic leukemia p15 q35 TRGJ2_INV_P TRBJ2-1_INV_D 1402666, 8412327 JU Mitelman Database, Reference No. 5161 Edit
616 12112533 46, XX, t(7;11)(p15;p15) [20] acute myeloblastic leukemia - M2 p15   HOXA13_Int1_Ex2   12112533   NUP98/HOXA13 fusion; Mitelman Database, Reference No. 9629 Edit
617 11841413_1 46, XX, t(7;11)(p15;p15) [21] chronic myeloid leukemia, acute leukemia phase (acute myeloblastic leukemia - M2 morphology) p15   HOXA9_exon1   11841413, 11830496 patient Y [11830496] double-chimeric transcripts:NUP98/H OXA9 and NUP98/HOXA11 fusions; Mitelman Database, Reference No. 9742 Edit
618 11841413_2 46, XX, t(7;11)(p15;p15) [21] chronic myeloid leukemia, acute leukemia phase (acute myeloblastic leukemia - M2 morphology) p15   HOXA11_Int1_Ex2   11841413, 11830496 patient Y [11830496] double-chimeric transcripts:NUP98/H OXA9 and NUP98/HOXA11 fusions; Mitelman Database, Reference No. 9742, 11136 Edit
619 9112426 46, XY, t(7;11)(p15;p15) [5]/ 46, XY, t(7;11)(p15;p15), del(12)(p12) [7]/ 46, XY [4] therapy-related acute myelomonocytic leukemia - M4 p15       9112426   Mitelman Database, Reference No. 6944 Edit
620 1671647_408 47, XY, +5, t(7;8;14)(p15;q24;q32) [21] diffuse large B-cell lymphoma p15       1671647 UTN 408 Mitelman Database, Reference No. 3729 Edit
621 9824199_EP13 46, XX, t(6;7)(p21;p15)/ 46, XX endometrial polyp-adenoma p15       9824199 tumor EP13 Mitelman Database, Reference No. 7700 Edit
622 3471306_3_2 47, XY, +8/ 47, idem, del(7)(p1?4p2?1), der(11)t(7;11)(p1?5;p15) chronic myeloid leukemia - atypical p15       3471306, 8353806 3 [3471306], 6 [8353806] Mitelman Database, Reference No. 1900 Edit
623 3480966 46, XY, t(7;11)(p15;p15), inv(16)(p13q22) acute myeloid leukemia p15       3480966, 3471306 Ref. 11 [3471306] Mitelman Database, Reference No. 2457 Edit
624 3456256 46, XX, der(7)t(7;11)(p15;q13), der(11)inv(11)(p15q13)t(7;11)(p15;p15)del(11)(q13) chronic myeloid leukemia, Ph negative p15       3456256, 3471306, 8353806 Ref. 8 [3471306], 5 [8353806] Mitelman Database, Reference No. 1340 Edit
625 9074407_2 46, XX, t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15       9074407 2 Mitelman Database, Reference No. 6990 Edit
626 9074407_3 47, XY, t(7;11)(p15;p15), +r(12) acute myeloblastic leukemia - M2 p15       9074407 3 Mitelman Database, Reference No. 6990 Edit
627 10436383_6 46, XX, t(7;8)(p15;q23) phenotypically normal, four spontaneous abortions p15       10436383 case 6 [Table 2]   Edit
628 12682631_40 4?, XY, t(3;7)(p21;p15) [partial karyotype] primary cutaneous T-cell lymphoma p15       12682631 40   Edit
629 8289502_2_1 69-71, XX, -Y, i(1)(q10), dup(2)(p13p23), der(3)t(1;3)(p13;p24), -4, der(4)inv(4)(q10q35)del(4)(p11p13)t(4;22)(q10; q10), add(6)(p22), der(6)t(6;7)(q21;p15), +del(7)(q34), +der(9)i(9)(p10)hsr(9)(p10), add(11)(p13), add(12)(p14), -13, der(13)t(9;13)(q12;p13), i(14)(q10),t (14;16)(q10;p10), +17, +19, +20, -21, i(21)(q10), -22, +mar Hodgkin disease, mixed cellularity p15       8289502 2 Mitelman Database, Reference No. 5337 Edit
630 Unpublished_28126 46, XY, der(8)t(7;8)(p15;p23). ish der(8)t(7;8)(p15;p23)(wcp7+, wcp8-) de novo congenital dislocated hip (left), plagiocephaly, preauricular sinus, hypospadias, low set ears, right undescend testis, left simian crease p15       28126 trisomy 7p15-pter; data unpublished Edit
631 12810249_2 4?, XY [-1p31.3-pter, -2q22-q34, -4q22-q28, -5q13-q21, -6q25, -7p15-qter, +13q22-qter, -14q21-q24.1, -19, -22q11.2-qter detected by CGH] radiation-induced meningioma: radiation for pilocytic astrocytoma? p15 qter     12810249 2   Edit
632 9723039_2 46, XY, t(1;2)(q32;p23), del(5)(q13), der(7)t(5;7)(q22;p15)del(7)(q21), del(12)(p12) refractory anemia with excess of blast in transformation, acute myeloblastic leukemia-M2 p15       9723039   Mitelman Database, Reference No. 7605 Edit
633 12619165_12 35-42, XX, r(3), -5, der(7)t(6;7)(?;q22), t(7;10)(p15;q22), -9, -10, der(11)t(9;11)(p12;p15), del(13)(q22), -17, -18 acute erythroleukemia - M6 p15 q22     12619165 12 Mitelman Database, Reference. No. 9973 Edit
634 7987800_7_2 46-47, XX, t(3;16)(p14;p13), add(4)(q3?3), inv(4)(p15q33), dup(5)(q32q34), der(6)add(6)(p24)add(6)(q15), del(7)(p15p21), der(7)?t(6;7)(q15;p15), ins(9;?)(q21;?), -10, -10, del(13)(q12q14), del(15)(q15), -17, -19, add(19)(q13), ins(20;1)(q13;q24q32), +add(22)(q13), +3-4mar [7] /46, XX [13] [skin] mycosis fungoides p15       7987800 7 (L64/91) Mitelman Database, Reference No. 5593 Edit
635 7987800_10 45, XY, t(1;8)(q23;q24), t(3;7)(p21;p15), add(6)(p?), -10, del(13)(q11q2?2), -17, -17, +2mar [9]/ 46, XY [4] [lymph node] Sezary syndrome p15       7987800 10 (L154/85) Mitelman Database, Reference No. 5593 Edit
636 7987800_34_1 76-78, XXY, +Y, +del(1)(p32), der(2)t(2;5)(q36;q31)x2, t(2;7)(q10;p10), der(5)t(3;5)(q21;q31)x2, del(6)(q15q2?3), +add(7)(p21), +der(7)t(7;13)(p15;q14), del(9)(q22q34),a dd(10)(q?), -12, -13, del(13)(q1?4)x2,+14,i(17)(q10),+ 18,+19,+21,+22,+ 4mar [10] /46, XY [54] [lymph node, PHA] peripheral T-cell lymphoma p15 p10     7987800 34 (L208/87) Mitelman Database, Reference No. 5593 Edit
637 3950675_2032 45, X, der(X)t(X;7)(p22;p1?5), t(1;4)(p36;p12), del(5)(q11q34), -7, del(12)(p1?2))/ 4 related single cell abnormalities Hodgkin's disease --> therapy-related myelodysplastic syndrome, therapy-related acute myeloid leukemia p15       3950675 2032 Mitelman Database, Reference No. 1826 Edit
638 2364166_2 46, XX, t(7;14)(p15;q32) [94%]/ 46, XX [6%] acute myeloblastic leukemia - M2 p15       2364166 2   Edit
639 2364166_6 46, XX, t(4;14;7)(q21;q32;p15) [44%]/ 46, XX [56%] acute lymphoblastic leukemia - L1 p15       2364166 6 Mitelman Database, Reference No.3511 Edit
640 9552025_54 46, XX, del(5)(q31), del(6)(q15q23), t(7;14)(p15;q32) acute lymphoblastic leukemia p15       9552025 54 Mitelman Database, Reference No. 7566 Edit
641 9552025_74 46, XY, ?inv(5)(p13q14), del(6)(p21-22), t(7;14)(p15;q32) acute lymphoblastic leukemia p15       9552025 74 Mitelman Database, Reference No. 7566 Edit
642 1954385_17 46, XY, add(7)(p15), add(17)(p13) acute lymphoblastic leukemia --> therapy-related acute myeloblastic leukemia with maturation - M2 p15       1954385 17 Mitelman Database, Reference No. 4077 Edit
643 2265404_15 46, XX, t(6;7)(q16;p15) [100%] adenocarcinoma of the thyroid p15       2265404 15 Mitelman Database, Reference No. 3637 Edit
644 7954324_10 46, Y, t(X;7)(q13;p15), der(17)t(13;17)(q12;p12) [18]/ 46, XY [2] [at relapse] acute lymphoblastic leukemia p15       7954324 10 Mitelman Database, Reference No. 5569 Edit
645 7954324_14 46, XY, inv(7)(p15q32), i(9)(q10), i(17)(q10) [19]/ 46, XY [1] [at relapse] acute lymphoblastic leukemia p15 q32     7954324 14 Mitelman Database, Reference No. 5569 Edit
646 7954324_22 45, XY, del(4)(q27), del(5)(q11), inv(7)(p15q22), +8, del(12)(p12), i(13)(q10), -16, -17, del(17)(p11) [20] [at diagnosis] chronic myelomonocytic leukemia p15 q22     7954324, 9973943 22 [7954324] Mitelman Database, Reference No. 5569 Edit
647 12138901 46, XY, t(7;11)(p15;p15) [20] acute myeloblastic leukemia - M2 p15   HOXA9   12138901   NUP98/HOXA9 fusion; Mitelman Database, Reference No. 9754 Edit
648 2790765 46, XY, t(7;12)(p15;p13), t(11;17)(q13;q12) [28]/ 46, XY [7] [one month before 4th relapse] acute promyelocytic leukemia - M3 p15       2790765   Mitelman Database, Reference No. 3115 Edit
649 11213837 46, XX, t(7;13)(p15;q14), t(8;12)(q13;p13) [17]/ 46, XX [3] angiomyxolipoma p15       11213837     Edit
650 2002483_mother 46, XX, inv(7)(p15q36) phenotypically normal p15 q36     2002483 mother mother of 2002483_proband Edit
651 9029678 46, XX, inv(7)(p15q31) multiple recurrent abortions p15 q31     9029678     Edit
652 8057667_18 46,XY,del(3)(q21q26),d er(3)t(3;7)(p11;q11)t(3;3)(q26;q21),d er(5)t(5;7)(q13;q34) or der(5)t(5;7)(q13;p15), t(5;14)(q31-33;q32), -7, del(7)(q11), +8 acute myelomonocytic leukemia - M4 p15 q34     8057667 18 Mitelman Database, Reference No. 5735 Edit
653 3478133_3808 46, XY, t(7;11)(p15;p15) acute myelomonocytic leukemia - M4 p15       3478133 3808 Mitelman Database, Reference No. 2099 Edit
654 1651392_WT21_1 46, XY, t(1;7)(q42;p15)c, i(7)(q10) Wilms tumor, nephrogic rest (contralateral), bilateral radial aplasia p15   RH12758/ D7S2373   1651392, 7954327, 8946193, 10646884, 12618763 WT21 [7954327, 10646884, 12618763], MCN ID: 19910003-999 de novo t(1;7); www.mcndb.org; Mitelman Database, Reference No. 5583 Edit
655 3410463_1 46, XX, t(2;7)(q23;p15)inv(7)(p15q11.2), t(5;20)(q11;q11) mat mental and growth retardation, psychomotor developmental delay; microphthalmos, long philtrum, prognathism, microcephaly, prominent horehead, slightly asymmetric face, prognathism, clinodactyly of 5th finger and toe p15       3410463, 1327590 proposita (B.A.); MCN ID: 19880002-999 mother (B.M.)and maternal grandmother (A.P.) had same karyotype and smilar phenotype; www.mcndb.org Edit
656 3410463_2 46, XX, t(2;7)(q23;p15)inv(7)(p15q11.2), t(5;20)(q11;q11) mat mental and growth retardation, psychomotor developmental delay; microphthalmos, long philtrum, prognathism, microcephaly, prominent horehead, slightly asymmetric face, prognathism, clinodactyly of 5th finger and toe p15 q11.2     3410463, 1327590 proposita (B.A.); MCN ID: 19880002-999 mother (B.M.)and maternal grandmother (A.P.) had same karyotype and smilar phenotype; www.mcndb.org Edit
657 11916331_1394 46, XX, inv(7)(p15q36) [2]/ 46, XX [98] autism, low posterior hairline, upslanting palpebral fissures, beaked nose, prognathism, coarse lips, halux valgum, kyphosis, lordosis p15 q36     11916331 1394   Edit
658 15120914 46, XY, der(12)t(7;12)(p15;q24) Acute lymphoblastic leukemia - L1 p15       15120914   Mitelman Database, Reference No. 10588 Edit
659 11835232_104 46, XY, t(5;6;7)(q23;q16;p15) [30] Wilms tumor p15       11835232 104 Mitelman Database, Reference No. 9439 Edit
660 11835232_147 44, XX, dic(1;16)(p11;q22), add(7)(p15), -11 [15] Wilms tumor p15       11835232 147 Mitelman Database, Reference No. 9439 Edit
661 2018838_16 47, XY, +X, t(7;9)(p15;p23-24), del(13)(q?14) acute lymphoblastic leukemia - L1 p15       2018838 16 Mitelman Database, Reference No. 3848 Edit
662 2018838_17 45, X, -Y, del(2)(p21), del(3)(q21), t(7;9)(p15;p23-24), inv(12)(p11q13), t(12;14)(p11;q11), i(17)(q10), -20, +mar acute lymphoblastic leukemia - L1 p15       2018838 17 Mitelman Database, Reference No. 3848 Edit
663 2306521_26 44, XY, add(7)(p15), -8, add(8)(p11), del(9)(p21), -20 pre-B-cell acute lymphoblastic leukemia p15       2306521 26 Mitelman Database, Reference No. 3342 Edit
664 3359679_1 46, XX, der(7)t(7;18)(p15;q23) pat brachycephaly, microphthalmos, absence of eyebrows, left choanal stenosis, microstomia with cleft palate, micrognathia, musculoskeletal abnormalities, cardiomegaly, genital abnormalities p15       3359679, 2679090, 2692511, 10494083 case 1 (A.III.2, Family A) [3359679], case 7 [2692511], case 24 [10494083] monosomy of 7p15-pter; father had balanced t(7;8) Edit
665 10572083_28 46, Y, t(X;7)(q13;p15) acute myeloid leukemia p15       10572083 28 Mitelman Database, Reference No. 8407 Edit
666 10572083_32 46, XY, t(3;7)(p23;p15) acute myeloid leukemia p15       10572083 32 Mitelman Database, Reference No. 8407 Edit
667 10572083_52 46, XY, t(2;12;12;2)(q23;q13;p13;q21), t(7;11)(p15;q21), del(17)(p12) acute myeloid leukemia p15       10572083 52 Mitelman Database, Reference No. 8407 Edit
668 10572083_61_2 46, XY, del(7)(q11)/ 46, idem, del(1)(q21), der(4)t(1;4)(q21;q21), der(6)t(6;6)(p23;q15)/ 45, XY, ins(2)(p23q33q37), t(3;8)(p23;p23), r(7)(p15q35), -13 acute myeloid leukemia p15 q35     10572083 61 Mitelman Database, Reference No. 8407 Edit
669 9680349_13 46, XY, der(7)t(7;19)(p15;p13), t(7;22)(q11;q11), ider(9)(q10)t(7;9)(p15;q34), der(19)t(7;19)(q11;p13), der(22)t(9;22)(q34;q11) acute lymphoblastic leukemia p15 q11     9680349 13 Mitelman Database, Reference No.7649 Edit
670 2910365_49 46, XX, t(11;14)(p13;q11)/ 46, idem, add(7)(p15) acute lymphoblastic leukemia p15       2910365 49 Mitelman Database, Reference No.2766 Edit
671 9475103_2 46, XX, trp(7)(p21p22) de novo. ish trp(7)(p22p21)(wcp7+, c109A6+, D7S517+++, D7S513+++, D7Z1+) [der(7)(qter-> p22::p21.3-> p21.2::p15-> p22::p22->pter)] growth and psychomotor retardation, joint dislocation/c ontractures, recurrent infections, severe pulmonary hypertenison p15 p22   D7S517 9475103, 10494083 case 30 [10494083] triplication of p15-p22 Edit
672 Ohba1993_1 4?, X?, t(7;11)(p15;q?) mat [der(11)t(7;11)(p15;q?) or +der(11)t(7;11)(p15;q?) inferred]   p15       12818527, 10494083 case 1 [Ohba et al., 1993], case 1 [12818527], case 27 [10494083] trisomy of 7p15-pter; first reported in Ohba et al., 1993, Teratology 48: 502 Edit
673 10705822_20 46, XY, t(7;16)(p15;q22), inv(16)(p13q22) [at diagnosis] acute myelomonocytic leukemia - M4 p15     10705822 20 Mitelman Database, Reference No.8553 Edit
674 8085554 46, XY [at presentation, BM]
45, XY, t(7;9)(p15;q13), der(13;14)(q10;q10) [24] [+2.5 mp, peripheral blood]
hepatosplenic gamma/delta T-cell lymphoma, renal transplant recipient p15       8085554, 9236834, 9486591, 11447750 23 in Table 2 [9486591] Mitelman Database, Reference No.5668 Edit
675 9454771_3 46, XY, t(7;12)(p15;p13) acute myeloblastic leukemia - M0 p15       9454771 3 Mitelman Database, No. 7269 Edit
676 9373267_22 46, XX, t(5;6)(q13;q23), del(7)(p15-21), del(12)(p12) T cell acute lymphoblastic leukemia p15 -21 pter     9373267 22 Mitelman Database, No. 7207 Edit
677 1596566_43 47, XY, +X, t(7;12;14)(p15;p13;q22) [14]/ 48, XY, +X, +19 [6] early pre-B cell acute lymphoblastic leukemia p15       1596566, 9373267 43 [1596566], 50 [9373267] Mitelman Database, No. 4280 Edit
678 1878594_1 45, XX, t(1;2)(p22;p14), t(7;14)(p15;q32), dic(12;18)(p11;p11) T cell acute lymphoblastic leukemia - L2 p15     1878594, 9373267 1 [1878594], 83 [9373267] Mitelman Database, No. 4010 Edit
679 1878594_13 46, XY, del(3)(p23), del(7)(p13p15), inv(12)(p11p13) [at diagnosis, L1]
46, XY, del(3), del(4)(q?11q21), del(7), inv(12) [at relapse, L2]
early pre-B cell acute lymphoblastic leukemia - L1 --> L2 p15 p13     1878594, 9373267 13 [1878594], 28 [9373267] Mitelman Database, No. 4010 Edit
680 2758395_70 46, XX, t(7;14)(p15;q32) acute myeloblastic leukemia - M2 p15     2758395, 2380759 70 [2758395], 32 [2380759] Mitelman Database, No. 2971 Edit
681 2380759_69 47, XY, +X, t(7;9)(p15;p22), del(13)(q14-21) [7] pre-B cell acute lymphoblastic leukemia p15     2380759, 1596566 69 [2380759], 59 [1596566] Mitelman Database, No. 3618 Edit
682 2496563_1 46, X, idic(X)(q13)
46, X, idic(X)/ 46, idem, r(7)(p15q32)
idiopathic myelofibrosis p15 q32     2496563 case 1 Mitelman Database, Reference No. 2901 Edit
683 11979548_22_3 41-45, XY, del(5)(q13q33), der(7)del(7)(p15)t(7;10)(q11.2;q11)t(10;12)(q2?3; ?q24), -10, der(12)t(10;12)(?;q24)t(7;1)(q?11;?)t(7;10)(q?22;q2?3), -17, -18, der(19)t(7;19)(p15;p13.3), der(20)t(17;20)(q11;q11) acute erythroleukemia - M6 p15       11979548 22 Mitelman Database, Reference No. 9492 Edit
684 11694401_10 47, XX, der(7)t(7;10)(p15;p14), +8, der(10)t(7;10)del(10)(q22), der(16)t(10;16)(q22;p13) acute monoblastic leukemia - M5a p15       11694401 10 Mitelman Database, Reference No. 9666 Edit
685 11694401_22_3 47, XX, +1, der(1;13)(p10;q10), der(2)t(2;7)(p2?1;p1?5), del(5)(q1?5q3?1), der(7)del(7)(p15)del(7)(q11), +8, -13, -15, der(16)t(7;16)(?;q2?2), der(17)t(15;17)(q1?;p11), +mar/ 46, idem, -der(7) refractory anemia with excess of blasts p15       11694401 22 Mitelman Database, Reference No. 9666 Edit
686 15674412_15 46, XX, inv(7)(p15q34) [4] T cell acute lymphoblastic leukemia p15 q34 RP11-1132K14 TRBJ2-1 15674412, 16673021, 17039236 15 [15674412, 16673021], 9 [17039236] partial deletion of the centromeric TCRβ probe in 95% of cells was observed; breakpoint at 7p15 is within a ~20kb segment located between HOXA5 and HOXA9; Mitelman Database Reference No. 10935 Edit
687 15674412_16 46, XX, add(5)(q31), inv(7)(p15q34) [11]/ 46, XX [9] T cell acute lymphoblastic leukemia p15 q34 RP11-1132K14 TRBJ2-5 15674412, 16673021, 17039236 16 [15674412, 16673021], 8 [17039236] breakpoint at 7p15 is within a ~20kb segment located between HOXA5 and HOXA9; Mitelman Database Reference No. 10935 Edit
688 15674412_17 46, XY, inv(7)(p15q34) [20] T cell acute lymphoblastic leukemia p15 q34 RP11-1132K14 RP11-785K24/ RP11-701D14 15674412, 16673021, 17039236 17 [15674412, 16673021], 7 [17039236] breakpoint at 7p15 is within a ~20kb segment located between HOXA5 and HOXA9; Mitelman Database Reference No. 10935 Edit
689 15674412_19 47, XY, del(6)(q14), inv(7)(p15q34), del(9)(p21), +mar1 [4]/ 46, XY [6] T cell acute lymphoblastic leukemia p15 q34 RP11-1132K14 RP11-785K24/ RP11-701D14 15674412, 16673021, 17039236 19 [15674412, 16673021], 5 [17039236] breakpoint at 7p15 is within a ~20kb segment located between HOXA5 and HOXA9; Mitelman Database Reference No. 10935 Edit
690 10502319_3 46, XY, add(6)(p21), t(7;11)(p15;p15) acute myeloblastic leukemia - M2 p15   HOXA9   10502319 3 Mitelman Database, Reference No. 8205 Edit
691 6451143_17 59, X, -X, -X, -1, -2, -3, -5, +6, add(7)(p15)x2, +8, -9, t(9;22), -10, -11, add(12)(q?), -13, -14, -15, -16, -18, +19, -20, +der(22)t(9;22)x2 chronic myeloid leukemia p15       6451143 17 Mitelman Database, Reference No. 774 Edit
692 12955091 t(2;7)(p21;p15) thyroid adenoma p15       12955091 cell line S533/TSV40 Mitelman Database, Reference No. 10323 Edit
693 10557043 t(7;11)(p15;q23) acute myeloid leukemia p15       10557043   Mitelman Database, Reference No. 8340 Edit
694 10451712_106877 46, XY, der(7)t(7;12)(p15;q15)del(12)(q23), der(12)t(12;13)(q15;q12), der(13)t(7;13)(p15;q12) lipoma p15       10451712 106877 Mitelman Database, Reference No. 7887 Edit
695 15721637 46, XX, t(7;11)(p15;p15), del(17)(p12) [37]/ 47, XX, idem, +8 [13] [cryptic t(7;11;13;17)(p15;p15;p?;p1?2) detected by FISH] acute myeloblastic leukemia - M2 p15   HOXA9_exon1   15721637   NUP98/HOXA9 fusion; Mitelman Database, Reference No. 10887 Edit
696 Adeyinka_2005 t(7;21)(p15;q22) acute myeloid leukemia p15         reported at Annual Clinical Genetics Meeting, 2005 (#134) Edit
697 15588849_3_1 43-44, XY, dic(1;11)(q10;p11), der(3;19)(q10;q10), ins(4;?)(p14;?), del(6)(q15), i(6)(p10), +i(6)(q10), i(8)(q10), -11, -12, der(13;14)(q10;q10), -14, del(16)(q13), -17, -18, -19, -21, +der(?)t(?;1)(?;p22), +1-2mar [cp26]/ 45, Y, add(X)(q13), del(1)(p13), der(1)t(1;7)(q44;p15), t(2;9)(p11;q34), der(7)t(1;7)(p13;p13), der(13)t(13;14)(p11;q13), -14/ 45, XY, t(11;18)(q23;q21), t(12;16)(q11;p11), der(13)t(13;14)(p11;q13), -14 [8] [primary tumor]
40-44, XY, dic(1;11), der(3;19), ins(4;?), del(6), i(6)(p10), +i(6)(q10), i(8)(q10), -11, -12, der(13;14), -14, del(16), -17, -18, -19, -21, +der(?)t(?;1), +1-2mar [cp15]/ 46, X, t(Y;6)(q12;q21), t(1;7)(p36;p15), add(5)(p13), inv(7)(p13q36), t(8;9)(q22;q34), del(10)(p13), add(11)(p15), t(12;19)(q15;q13) [26] [local recurrence]
squamous cell carcinoma of the tongue p15 p13     15588849 3 Mitelman Database, Reference No. 10815 Edit
698 Yung_ASHG2005 46, XY, t(4;7)(q33;q22), t(7;15)(p15;q24) [der(7)t(4;7)t(7;15)] phenotypically normal; wife had multiple first trimester spontaneous abortions p15 q22     7 Yung et al., ASHG 2005, Program #806 Edit
699 16382447_8 46, XX [80] [July/02, PB-PHA]
46, XX [11] [Jan/04, BM]
46, XX [98] [t(7;14)(p15;q11) was detected 1 of 157 mitoses by FISH] [Jan/04, PB-PHA]
Shwachman syndrome (without MDS/AML) p15       16382447 UPN 8 SBDS mutation (+) Edit
700 16382447_10 46, XY [15] [Dec/02, BM]
46, XY [83] [t(7;14)(p15;q13) was detected in 1 mitoses of 130 by FISH] [Dec/02, PB-PHA]
46, XY [19] [Apr/04, BM]
46, XY [98] [Apr/04, PB-PHA]
Shwachman syndrome (without MDS/AML) p15       16382447 UPN 10 SBDS mutation (+) Edit
701 16157206 47, XX, +6, t(7;9)(p15;q34), +10, -17, +20, -22 refractory anemia with excess of blasts in transformation --> acute megakaryoblastic leukemia - M7 p15   RP1-170O19   16157206   involvement of HOXA genes suggested; Mitelman Database Reference No. 11179 Edit
702 15162125_1 46, XX, t(4;7)(q21;p15) mental retardation p15       15162125 case 1 familiar translocation Edit
703 15039973_DD7500777 46, XX, t(7;11)(p15;p11) mat phenotype not given p15       15039973 DD7500777   Edit
704 15039973_DD8001452 46, XX, t(7;12)(p15;q13) pat phenotype not given; prenatal diagnosis was done p15       15039973 DD8001452   Edit
705 15039973_DD8804931 46, XY, t(7;12)(p15;q15) pat phenotype not given; prenatal diagnosis was done p15       15039973 DD8804931   Edit
706 15039973_DD9302047 46, XX, t(7;16)(p15;q22) mat reproductive difficulties p15       15039973 DD9302047   Edit
707 15039973_DD7700805 46, XY, t(7;17)(p15;q11) abnormal phenotype p15       15039973 DD7700805   Edit
708 15039973_DD7600800 46, XY, inv(7)(p15q22) pat abnormal phenotype p15 q22     15039973 DD7600800   Edit
709 MCN_20040010-048 46, XY, t(1;7)(p33;p15) azoospermia/o ligospermia p15       MCN ID: 20040010-048 www.mcndb.org Edit
710 16364762_7 45, XY, der(3;17)(q10;q10) [2]/ 45, idem, der(13)t(3;13)(p21;p11) [2]/ 62-69, XX, -Y, -1, -2, add(2)(p11), -3, der(4)add(4)(p11)hsr(4)(p11)x2, -5, -6, der(7)add(7)(p15)add(7)(q32), -8, +9, add(9)(q11)x2, add(10)(p11), -11, add(11)(q13)x2, add(12)(q24), -13, +14, add(14)(p11)x2, add(15)(q15), -16, +17, +17, der(17;21)(q10;q10), -18, -19, add(19)(p11), -22, -22, -22, +der(?)t(?;13)(?;q13)x2, +6mar [cp5] squamous cell carcinoma of the oral cavity - floor of the mouth p15 q32     16364762 7 Mitelman Database, Reference No. 11284 Edit
711 MCN_20060002-114 46, XY, t(7;16)(p15;q22) intrauterine growth retardation p15       MCN ID: 20060002-114 www.mcndb.org Edit
712 14669294_60 45, XX, t(1;2)(p22;p14), t(7;14)(p15;q32), dic(12;18)(p11.2;p11.2) [15]/ 46, XX [3] T cell acute lymphoblastic leukemia p15       14669294 60 Mitelman Database, Reference No. 10441 Edit
713 Fusco_ASHG2006 t(4;7)(q26;p15) de novo mental retardation, speech delay, hypotonia, unilateral strabismus, horizontal palpebral fissures, open mouth with cupids bow, folded down helix, bilateral cryptorchidism, pulmonic stenosis, syndactyly of 2nd and 3rd toes p15   RP11-954B12     RP11-954B12 is not in our databse; Fusco et al., ASHG 2006 Edit
714 17039236_1 46, XY, t(7;7)(p15;q34) [4]/ 46, XY [16] T-cell acute lymphoblastic leukemia p15 q34     17039236 1 TCRβ-HOXA rearrangement (+) Edit
715 17039236_3 47, XY, +11 [7]/ 47, XY, inv(7)(p15q34), +21 [4]/ 46, XY [1] T-cell acute lymphoblastic leukemia p15 q34     17039236 3 TCRβ-HOXA rearrangement (+) Edit
716 17039236_4 46, XX, inv(7)(p15q34) del(9)(p12p24) [29] T-cell acute lymphoblastic leukemia p15 q34     17039236 4 TCRβ-HOXA rearrangement (+) Edit
717 16673021_21 46, XY, inv(7)(p15q34) or t(7;7)(p15;q34) [20] T-cell acute lymphoblastic leukemia p15 q34 RP1-167F23/ RP5-1103I5 RP11-1220K2/ RP11-556I13 16673021 21   Edit
718 16673021_22 47, XY, inv(7)(p15q34) or t(7;7)(p15;q34), +21 [20] T-cell acute lymphoblastic leukemia p15 q34 RP1-167F23/ RP5-1103I5 RP11-1220K2/ RP11-556I13 16673021 22   Edit
719 16673021_30 46, XY, t(7;14)(p15;q11), t(10;11)(p14;q21), add(18)(q23) [11]/ 46, XY [9] T-cell acute lymphoblastic leukemia p15   RP1-167F23/ RP5-1103I5   16673021 30   Edit
720 16397222_1 46, XX, 2, 6, add(7)(p15), +2mar [11]/ 46, XX [4] [G-banding]
46, XX, inv(2)(p21q37), der(6)del(6)(p21)t(6;7)(q21;p15), der(7)t(6;7)(p21;p15)del(6)(q21) [FISH]
endometrial stromal sarcoma p15       16397222 case 1 Mitelman Database Reference No. 11323 Edit
721 16616106_80 46, XY, add(11)(q23) [4]/ 46, XY, t(7;21)(p15;q22) [9]/ 46, XY [12] acute myelomonocytic leukemia - M4 or acute myeloblastic leukemia - M2 with monocytosis, de novo p15       16616106 80 Database Reference No. 11416 Edit
722 16616106_101 46, XY, t(7;21)(p15;q22) [4]/ 46,XY [16] chronic myelomonocytic leukemia --> therapy-reduced acute myelomonocytic leukemia - M4 p15       16616106 101   Edit
723 15759035_6 46, XX, t(7;14)(p15;q11), +8 [9] refractory anemia with excess of blasts p15       15759035 6 Mitelman Database Reference No. 10968 Edit
724 15759035_13 46, XY, t(7;11)(p15;p15) [20] refractory anemia with excess of blasts in transformation p15       15759035 13 Mitelman Database Reference No. 10968 Edit
725 15759035_16 46, XX, t(7;11)(p15;p15) [3] chronic myelomonocytic leukemia p15       15759035 16 Mitelman Database Reference No. 10968 Edit
726 16467868_6 46, XX, t(7;11)(p15;p15) [19]/ 46, XX [1] acute myelomonocytic leukemia - M4 p15   HOXA   16467868 6 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
727 16467868_7 46, XY, t(7;11)(p15;p15) [18]/ 46, XY [2] acute myelomonocytic leukemia - M4 p15   HOXA   16467868 7 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
728 16467868_8 46, XY, t(7;11)(p15;p15) [20] acute myelomonocytic leukemia - M4 p15   HOXA   16467868 8 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
729 16467868_9 46, XY, t(7;11)(p15;p15) [9]/ 46, XY [3] acute myeloblastic leukemia - M2 p15   HOXA   16467868 9 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
730 16467868_10 46, XY, t(7;11)(p15;p15) [21]/ 46, XY [1] acute myeloblastic leukemia - M2 p15   HOXA   16467868 10 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
731 16467868_11 46, XY, t(7;11)(p15;p15) [20] acute myeloid leukemia p15   HOXA   16467868 11 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
732 16467868_15 46, XX, t(7;11)(p15;p15) [26]/ 46, XX [4] acute myelomonocytic leukemia - M4 p15       16467868 15 NUP98/HOXA fusion; Mitelman Database, Reference No. 11627 Edit
733 17063086_2 46, XX, del(5), t(7;14)(p15;q32) [2]/ 45, idem, -8, der(12)t(8;12)(q11;p11), inv(17)(p13q11) [16]/ 46, XX [1] T-cell acute lymphoblastic leukemia p15       17063086 2 Mitelman Database, Reference No. 11644 Edit
734 17063086_5 46, XX, add(6)(q15), add(7)(p15), der(14)t(7;14)(p15;q11) [16]/ 46, XX [4] T-cell acute lymphoblastic leukemia p15       17063086 5 Mitelman Database, Reference No. 11644 Edit
735 19672683 47,XYY, inv(7)(p15q36) de novo postaxial polydactyly type A, syndactyly 3-6 of both hands and feet, shortened ulna, overgown radialhead, left knee congenital flexion-contraction, webbing of the fossa poplitea, lateral patella luxation p15 q36 G248P81511A6/G 248P89547A12 G248P89016G3 19672683   bp on p arm lies within intron 1 of NFE2L3 Edit
736 18556065_18 46,XY,del(6)(p11p24),t (7;11)(p15;p15),+mar[15]/46,X Y[3] myelodysplastic syndrome - chronic myelomonocytic leukemia p15       18556065 Patient 18   Edit
737 1981052_BC 46, XY, del(7)(p12.3p14.2) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation p14.2 p12.3 AC073068/ AC006033 AC095067 1981052, 7521123, 9520255, 11484201, 16829355 BC [1981052], case 2 [7521123], C [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
738 MCN_19940001-044 46, XY, t(7;9)(p14.2;q32) de novo sparse/absent scalp hair - generalised, hypogonadism/d elayed puberty, general radiological abnormality, anosmia, hypogonadotrophic hypogonadism p14.2       MCN ID:19940001-044 www.mcndb.org Edit
739 19407829 t(2;7)(p24.3;p14.2) acute myeloid leukemia, myelodysplastic syndrome p14.2   ELMO1   19407829   Edit
740 Unpublished_EP2 46, X?, t(7;18)(22BE7+, 12FG1-, 12FG1+) Greig cephaloploysyndactyly syndrome p14.1   D7S2746/ D7S2030   EP2 data unpublished Edit
741 10987657_1 46, XX, dup(7)(p13p12.1) mat. ish dup(7)(946H08+, 810G02++, 896D09+) Russell-Silver syndrome p14.1 p12.1 AC004934/ AC005026 GRB10/ EGFR$ 10987657, 12384779 case 1 (LB) daughter of 10987657_2; molecular cytogenetic data is not consistent with karyotype Edit
742 10987657_2 46, XX, dup(7)(p13p12.1) de novo. ish dup(7)(946H08+, 810G02++, 896D09+) Russell-Silver syndrome p14.1 p12.1 AC004934/ AC005026 GRB10/ EGFR$ 10987657 case 2 (TB); ECACC No. 102801 (cell line: MD0003) mother of 10987657_1; www.ecacc.org.uk; molecular cytogenetic data is not consistent with karyotype Edit
743 12384779_HC/AC 46, XY, dup(7)(p11.2p13)/ 46, XY Post-natal growth retardation p14.1 p11.2 D7S1935/ sWSS2750 D7S1618/ D7Z2 12384779 HC/AC mother also had mosaic duplication; molecular cytogenetic data is not consistent with karyotype Edit
744 11353439 46, XY, ?dup(7)(p14.1p11.2) de novo autistic disorder, bilateral clinodactyly and short tapered fingers p14.1 p11.2     11353439, 11733747 REF. 98 [11733747]   Edit
745 14608643_G01 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS), mental retardation p14.1 p14.1     14608643 G01 small deletion restricted to the region surrounding GLI3 Edit
746 14608643_G02 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS) p14.1 p14.1 rs2141173/ rs10486731 rs12536413/ rs2330413 14608643 G02 deletion size was 176 kb Edit
747 14608643_G03 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS) - familiar p14.1 p14.1 rs846317/ rs846316 rs6942797/ rs7802798 14608643 G03 deletion size was 151 kb Edit
748 114608643_G11 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS), developmental delay, abnormal corpus callosum p14.1 p14.1 rs4724063/ rs10248172 rs12540814/ rs12674444 14608643 G11 deletion size was 1.01 Mb Edit
749 14608643_G17 4?, X?, del(7)(p13p14.1) Greig cephalopolysyndactyly syndrome (GCPS), mental retardation, developmental delay, abnormal corpus callosum p14.1 p13 rs3823619/ rs3800854 rs4503017/ rs799707 14608643 G17 deletion size was ~6.0 Mb; GLI3, INHBA and 36 additional genes are deleted Edit
750 14608643_G21 4?, X?, del(7)(p12.3p14.1) Greig cephalopolysyndactyly syndrome (GCPS), mental retardation p14.1 p12.3 AC073345 AC010971 14608643 G21 ~10.6-Mb deletion; GLI3, INHBA and 45 additional genes are deleted Edit
751 14608643_G36 4?, X?, del(7)(p14.1p14.1) Greig cephalopolysyndactyly syndrome (GCPS), developmental delay p14.1 p14.1 rs2330208/ rs10236335 rs12536150/ rs6973799 14608643 G36 deletion size was 728 kb Edit
752 17273791 t(7;9)(p14.1;q31.3)de novo Kallmann syndrome, bone anomalies p14.1       17273791     Edit
753 17937435_2 46, XY,t(1;5;7)(p32.1;q14.3;p21.3)de novo [cryptic del(1)(p31.1p31.1)del(7)(p14.1p14.1) detected by microarray] severe psychomotor retardation, hypertonia, congenital heart defect, dysmorphic features resembling Greig cephalopolysyndactyly syndrome, polysyndactyly and polydactyly of hands and feet, micrognathia, hypertelorism, wide nasal bridge, bulbous nasal tip, thin upper lip, large anterior fontanelle, horizontal nystagumus, duplication of ureters, spastic tetraparesis, absent speech, low set posteriorly rotated ears, downslanting palpebral fissures, synophrys, short neck, hirsutism, suspected Saethre-Chotzen syndrome p14.1 p14.1 RP11-786M13/R P11-164E6 RP11-2J17/RP11-429N13 17937435 proband ~5.1 Mb deletion, localized on translocation derivative Chr. 7 Edit
754 17901695_25_2 45,XX,dic(7;9)(p11~13;p11).arr (7p14.1)x1,(7p12.1p14.1)x1,( 9p13.1)x1 acute lymphoblastic leukemia p14.1 p12.1 RP11-779O21 RP11-153N17 17901695 25 ~10.1 Mb deleted Edit
755 22183494_1 arr 7p14.1(38,285,500–38,302,7 25)x1 [hg18] Dupuytren’s disease p14.1 p14.1     22183494 1 out of 8 cases ~17,225 kb deletion Edit
756 22183494_2 arr 7p14.1(38,285,500–38,302,7 25)x3 [hg18] Dupuytren’s disease p14.1 p14.1     22183494 7 out of 8 cases ~17,225 kb duplication Edit
757 711238 46, XX, del(7)(p14p14) microcephaly, congenital heart disease, limitation of joint movement, mild mental retardation p14 p14     711238, 7116680, 7521123, 12548740 i [7116680], case 5 [7521123], case 15 [12548740]   Edit
758 1879832 46, XX, del(7)(p13p14) de novo Greig syndrome: developmental delay, preaxial polydactyly of toes, postaxial polydactyly of fingers, syndactyly of fingers & toes, macrocephaly, broad nasal bridge, broad thumbs, anterior anus p14 p13     1879832, 7521123, 9520255 case 3 [7521123], GM10609, MCN ID: 19910010-999, lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository; www.mcndb.org Edit
759 1746608 46, XY, del(7)(p11.2p14) craniosynostosis, seizures, developmental delay, large facial hemangioma, brain anomaly p14 p11.2     1746608, 7521123, 9520255 case 17 [7521123]   Edit
760 7828151_36_1 46, XY, del(7)(p11.2p14), del(7)(q22), del(17)(p?13), del(20)(q11.2) refractory anemia p14 p11.2     7828151 36 Mitelman Database, Reference No. 5644 Edit
761 2679090_1 46, XY, der(15)t(7;15)(p14;q26) pat multiple congenital anomalies, hypertelorism, jaundice, hypocalcemia, congestive heart failure, apnea, bradycardia, seizures p14       2679090, 8839888, 10494083 patient 1 [2679090], Ref. 14 [8839888], case 17 [10494083] trisomy of 7p14-pter; father had balanced t(7;15) Edit
762 7197256 46, XX, t(6;12)(q27;q21), ins(7;8)(p14;q22q13) pat phenotypically normal, multiple miscarriages (four out of five pregnancies) p14       7197256 proband (III-1) father (II-1), son (IV-1), sister (III-4) and her daugher (IV-9) had same translocation and insertion Edit
763 5489883 46, XX, inv(2)(p25q13), dup(7)(p13p14) de novo intentional tremor of extremities, congenital heart defect, congenital luxation of left hip, shortened left hip, very small stature, microcephaly, hypertelorism, mental retardation p14 p13     5489883, 4130027, 2679090, 2363431, 8839888, 9297445, 10494083 proposita (JP111153 ) [5489883], case 2 [9297445], case 12 [10494083]   Edit
764 7664288_44 LOH(7) prostate cancer p14 q31 D7S484/ D7S510 D7S523/ D7S486 7664288 44   Edit
765 Unpublished_GM10925 46, XY, del(7)(p14p12) Greig cephalopolysyndactyly syndrome, broad nasal bridge, extra digits, fused digits, ventricular septal defects, coarctation of aorta p14 p12     GM10925 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository; data unpublished Edit
766 Unpublished_WW0240 46, XX, t(7;16)(p14;q21) phenotype not given p14       WW0240 ecacc.org.uk; data unpublished Edit
767 6962308_92 46, XY, t(9;22)(q34;q11) [chornic phase]
46, XY, t(7;11)(p14;p15), t(9;22)(q34;q11)/ 47, idem, +der(22)t(9;22) [blastic phase]
chronic myeloid leukemia, blastic phase p14       6962308, 3471306, 3478104, 8353806 92 [6962308], Ref. 17 [3471306], 14 [3478104], 2 [8353806] Mitelman Database, Reference No. 809 Edit
768 6704943_MA 46, XX, t(7;11)(p14;p15) acute myelomonocytic leukemia-M4 p14       6704943, 3471306, 3478104, 8353806 M.A. [6704943], Ref, 9 [3471306], 11 [3478104], 18 [8353806] Mitelman Database, Reference No. 1066 Edit
769 3080042_6_1 46, XY, del(6)(q23), t(7;7;7)(p14;q11-q35;q11-32) Sezary syndrome p14       3080042 6 Mitelman Database, Reference No. 1571 Edit
770 3828970_56960 46, XX, del(7)(p14) [PV 6 yr, AML-Mb5] polycythemia vera --> acute monoblastic leukemia - M5b p14 pter     3828970 56960   Edit
771 ECACC_95080208 46, XX, t(7;16)(p14;q21) phenotypically normal p14       95080208 (cell line: WW0240) www.ecacc.or.uk Edit
772 9439652_LC4_1 46, XY, t(5;9)(q22.1;p22), t(7;18)(p14;q21)inv?(7q) [revised based on SKY] dysmorphic features, developmental delay p14       9439652 case LC4   Edit
773 9779802_3 46, XX, t(3;7)(q26.2;p14) [6]/ 46,XX [8] phenotypically normal; had two stillborn children p14       9779802 case 3, mother of propositus propositus had normal karyotype Edit
774 3376998_30F 46, XX [13]/ 46, XX, inv(7)(p14q35) [1] multiple spontaneous abortion p14 q35     3376998 30 year-old female   Edit
775 1928105_3 46, XX, t(6;7)(q13;p14) de novo four spontaneous abortions p14       1928105 3rd case in Table 3   Edit
776 NIGMS_GM10925 46, XY, del(7)(p12p14) Greig cephalopolysyndactyly syndrome, broad nasal bridge, extra digits, fused digits, ventricular septal defects, coarctation of aorta p14 p12     GM10925 lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
777 3538996_DI1b 46, XY, inv(7)(p14q21.3) phenotypically normal; wife had recurrent abortions p14 q21.3     3538996 DI1b   Edit
778 3538996_CH1 46, XY, inv(7)(p14q21.3) mat abnormal phenotype p14 q21.3     3538996 CH1 mother had same inversion Edit
779 3538996_LI1b/PA13a 46, XY, inv(7)(p14q21.3) mat sterility p14 q21.3     3538996 LI1b, PA13a mother and one brother (not sterile) had same inversion Edit
780 3538996_PA12b/PA3 46, XX, inv(7)(p14q21.3) mat, +21 trisomy 21 p14 q21.3     3538996 PA12b, PA3 mother, maternal aunt and her child (cousin) had same inversion; maternal uncle had child with trisomy 21 Edit
781 3538996_ST2a 46, XY, inv(7)(p14q11) phenotypically normal; wife had abortion p14 q11     3538996 ST2a son had same inversion Edit
782 2627110 46, XY, del(7)(p12p14-15), t(11;19)(q21;p12-13) benign parotid tumor -adenolymphoma p14 - 15 p12     2627110     Edit
783 MCN_19850008-114 46, XY, inv(7)(p14q22.2) ambiguous genitalia p14 q22.2     MCN ID: 19850008-114 www.mcndb.org Edit
784 MCN_19890002-030 46, X, t(X;7)(q21.2;p14) choroideremia p14       MCN ID: 19890002-030 www.mcndb.org Edit
785 MCN_19760002-001 46, XX, t(3;7)(q21;p14) de novo mental retardation, abnormal cry/voice, macroglossia, coarse face, sex discrepancy genitalia vs chromosomes, ataxia/inco-ordination p14       MCN ID: 19760002-001 www.mcndb.org Edit
786 MCN_19940003-044 46, XX, t(7;12)(p14;q32) mat neutrophil dysfunction/ neutropenia p14       MCN ID: 19940003-044 www.mcndb.org Edit
787 MCN_19920001-049 46, XX, t(7;13)(p14;q32) ptosis, hypertelorism, ridged metopic suture/trigonocephaly p14       MCN ID: 19920001-049 www.mcndb.org Edit
788 14697643_12 46, XX, t(7;11)(p14;q24), der(16)t(1;16)(q21;q13) [20] Wilms tumor, stage II p14       14697643 12 Mitelman Database, Reference No. 10418 Edit
789 6862436 4?, XY, inv(7)(p14q35), t(14;14) ataxia telangiectasia p14 q35 TRGV3 TRBJ2-2$ 6862436, 2529926 AT patient Mitelman Database, Reference No. 3171 Edit
790 11921290 45, XY, -5, +8, del(9)(p2?), add(10)(p1?), add(17)(p1?), -21 [9]/ 45, XY, -5, add(6)(p2?), +8, add(17)(p1?), +i(21)(q10) [4] [at diagnosis]
45, XY, -5, add(17)(p1?) [7]/ 45, XY, -5, +8, del(9)(p2?), add(10)(p1?), add(17)(p1?), -21 [1]/ 45, XY, -5, t(7;16;11)(p1?4;p13;q23), add(17)(p1?) [11]/ 46, XY [2] [after the first chemotherapy]
acute myeloid leukemia p14       11921290   Mitelman Database, Reference No. 9400 Edit
791 10469450_134 46, XY, del(5)(q13q31), t(7;12;19)(p14;q13;q13.4) [24] pulmonary chondroid hamartoma p14       10469450 134 Mitelman Database, Reference No. 8134 Edit
792 3471306_1 46, XX, t(7;11)(p14;p15) acute myelomonocytic leukemia-M4 p14       3471306 1 Mitelman Database, Reference No. 1900 Edit
793 3471306_2 46, XX, t(7;11)(p14;p15)/ 46, XX myelodysplastic syndrome, paroxysmal nocturnal hemoglobinuria p14       3471306, 8353806 2 [3471306], 1 [8353806] Mitelman Database, Reference No. 1900 Edit
794 12682631_30 4?, X?, t(1;7)(p31-32;p1?3), t(14;18)(q11;p11) [partial karyotype] precursor T-cell lymphoblastic leukemia/lymphoma p14   RP11-243E12/ RP11-273L18   12682631 30   Edit
795 9552025_78 46, XX, t(7;14)(p14;q32), del(9)(q12q22) acute lymphoblastic leukemia p14       9552025 78 Mitelman Database, Reference No. 7566 Edit
796 10640979_22 46, XX, t(2;7)(q24;p14) [8]/ 46, idem, add(20)(q13.3) [4] meningioma of the brain p14       10640979 22 Mitelman Database, Reference No. 8428 Edit
797 10640979_23 39-40, X, -X, der(1;2)(q10;q10), -2, -3, der(7)t(3;7)(q?12;p14), -22 [cp5]/ 46, XX, t(9;12)(p21;q23) [6] meningioma of the brain p14       10640979 23 Mitelman Database, Reference No. 8428 Edit
798 15390181 46, XY, del(7)(p11.2p14) [74%]/ 46, XY [26%] [bone marrow] acute lymphoblastic leukemia, Greig cephalopolysyndactyly, mild developmental delay, cryptorchidism of the left testis, strabismus, normal gross motor development p14 p11.2     15390181   ZNFN1A1, GLI genes were involved in deletion Edit
799 2790202_13 45, XY, t(9;22)(q34;q11) [2]/ 46, idem, der(7)t(7;17)(p14;q22), -17 [8] chronic myeloid leukemia p14       2790202 13 Mitelman Database, Reference No. 3127 Edit
800 10572083_40 45, X, -X, t(1;8)(p22;q21), t(7;21)(p14;q22), del(9)(q13q22) acute myeloid leukemia p14       10572083 40 Mitelman Database, Reference No. 8407 Edit
801 9395262 46, XY, t(7;13)(p14;q21), t(9;13)(p11.2;p21) oligospermia or azoospermia p14       9395262, 11139537 case 9 [11139537]   Edit
802 3774769 46, XY, t(7;7;14)(p14; q22;q11) de novo phenotypically normal p14 q22     3774769, 8958330, 16470734   rearrangement arose in the paternal germ line; father was exposed to professional X-ray and this may have played a role Edit
803 3014795 48, XX, der(7)t(7;9)(p14;q21)t(9;22)(q34;q11), +8, +8, -9, +22, der(22)t(9;22)x2 chronic myeloid leukemia p14       3014795   Mitelman Database, Reference No. 1660 Edit
804 9665199 42, X, -Y, del(5)(q1?2q3?4), der(5)t(5;9)(p1?5;q1?3), -7, -9, der(9)t(Y;9)(q1?2;p22)t(9;19)(q1?2;p12 or q12), dic(11)t(9;11;19), der(14;21)(q10;q10)del(14)(q1?3), -16, der(17)t(7;17)(p14;p12), -19, del(19)(p1?1q1?2), +21, der(21)t(11;21)(q22;q22), der(22)t(19;22)(p12 or q12;p1?1) [5] acute myeloblastic leukemia - M1 p14       9665199, 12946992 cell line UoC-M1   Edit
805 9824207_167_1 45, XY, der(7)t(7;13)(p14;q13), -13 [3]/ 46, XY [24] [May/95]
46, XY, add(1)(p13), add(12)(p13) [10]/ 45, idem, -7 [13] [Aug/95] [RA, RAEB]
multiple myeloma--> therapy-related refractory anemia --> therapy-related refractory anemia with excess of blasts p14       9824207 167 Mitelman Database, Reference No. 7702 Edit
806 15325092_16 46, XX, del(5)(q21) [5]/ 46, X, t(X;2)(p22.;p11.2), der(2)t(2;19)(p11.2;q13?), del(4)(q22), del(5)(q21), der(16)t(5;16)(?;q12) [8]/ 46, XX [3] [karyotyped by SKY]

rev ish enh(8q22q23, 21q22), dim(3p21p24, 4p16, 5p15.3, 5q21q33, 7p14, 9p23, 10q24, 18q23) [detected by CGH]
refractory anemia with excess of blasts in transformation p14 p14     15325092, 15611930 16   Edit
807 15325092_17 46, XY, del(3)(q?), del(5)(q13), del(12)(p12) [10] [karyotyped by SKY]

rev ish dim(3p24pter, 3p14, 3q13.2q24, 5p15.3, 5q14q33, 6p25, 6q27, 7p14, 8p22pter, 11q14q22, 11q24qter, 12p12, 12q21, 13q21qter, 18q12q22, Xq28) [detected by CGH]
refractory anemia with excess of blasts in transformation p14 p14     15325092, 15611930 17   Edit
808 15325092_20_1 46, XY, del(17)(p11.2), del(20)(q11.2) [9]/ 46, XY [3] [karyotyped by SKY]

rev ish enh(1p36.3), dim(1p31, 2p25, 4q13q33, 5q33, 7p14, 7q31, 9p23, 14q24, 20p12, 20q12q13.2, Y, Xq25) [detected by CGH]
refractory anemia with excess of blasts p14 p14     15325092, 15611930 20   Edit
809 Maloney_ESHG2005_2_1 46, XY, ins(7)(p14q31q34) del(7)(q31q31) [cryptic del(7)(q35q35) was detected by FISH] mild to moderate learning difficulties, arrested hydrocephalus, short stature, small head p14       second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
810 6252821_1 46, XY, t(4;7;15)(q212;p14;q26)del(11)(p13p14) de novo psychomotor development and growth retardation, aniridia, bilateral glaucoma, corneal clouding, hypospadias, cryptorchidism, severe gonadal dysgenesis, presence of Mullerian derivatives, bilateral gonadoblastoma p14       6252821, 6114032 patient 1 [6252821], patient 11 (present report) [6114032]   Edit
811 16616106_52 46, XY, t(7;21)(p14∼15;q22) [20] [relapse] acute erythroleukemia - M6, therapy-induced p14-15       16616106 52 Database Reference No. 11416 Edit
812 16616106_85 40, XY, add(4)(q21), add(5)(q31), −6, −7, del(7)(p12p14), −11, add(14)(p11), der(15)t(15;17)(p11;q11), −16, −17, −18, add(21)(q22) [2]/ 40, idem, +?add(18)(p11), −22 [3]/ 40, idem, add(2)(p23), +18, −22 [4]/ 41, idem, add(2)(p23), +18, −22, +r(?) [9]/ 46, XY [3] acute erythroleukemia - M6, de novo p14 p12     16616106 85   Edit
813 11484201_A 46, XX. ish del(7)(p13p13)(12FG1-, 22BE7-, 32JD10-) de novo Greig cephaloploysyndactyly syndrome p13 p13 D7S2454/ SHGC-82690 IGFBP3/ D7S2558 11484201, 16829355 A molecular data unpublished Edit
814 7521123_a 46, X?, del(7)(p13p13) pat [karyotype not given] Greig cephalopolysyndactly syndrome, psychomotor retardation, cardiac defects (VSD, PDA, PA), broad flat nasal bridge, low set malformed ears p13 p13     7521123, 9520255 a deletion from unbalanced product of paternal balanced insertional translocation Edit
815 11484201_BA/BB 46, XY, del(7)(p12.3p13) de novo. ish del(7)(p13)(12FG1-, 22BE7-, 32JD10-) Greig cephaloploysyndactyly syndrome p13 p12.3 RH61826/ WI-9088 D7S2528/ NPC1L1 11484201, 16829355 BA and BB (monozygotic twins) [11484201], B [16829355]   Edit
816 1663489_3BC 46, X?, del(7)(p12.3p13) Greig cephalopolysyndactyly syndrome p13 p12.3     1663489 3BC   Edit
817 Kirkilionis_A1145 46, XY, del(7)(p12.2p13) Greig Cephalopolysyndactyly, delayed cognition and motor development, macrocephaly and severe tracheomalacia p13 p12.2       Kirkilionis et al, abstract, A1145 Edit
818 10449919_EL_2 46, XY, dup(7)(p11.2p13) de novo [14]/ 46, XY, del(7)(p11.2p13) de novo [5]/ 46, XY [17] ultrasound showed choroid plexus cyst and echogenic bowel p13 p11.2     10449919 EL   Edit
819 1663489_4IRB 46, X?, del(7)(p11.2p13) Greig cephalopolysyndactyly syndrome p13 p11.2     1663489 4IRB   Edit
820 1981052_IR_2 46, XY, t(7;20)(p11.2;p11.2)del(7)(p11.2p13) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation, spasm and epileptic seizures, hirsutism of the face, back and legs p13 p11.2 7Gr395mb/ CDC2L5 D7S2542/ SEC61G$ 1981052, 7521123, 9520255, 11484201, 16829355 IR [1981052], case 1 [7521123], D [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
821 3359679_D 46, XX, der(7)t(3;7)(p25;p13) mat [inferred] coarse facies, craniosynostosis, hypertelorism, micrognathia, cleft palate, cardiovascular anomalies, uterus and vagina duplex, died at 13 days of age p13       3359679 D.IV.5, Family D monosomy of 7p13-pter, inferred; mother (D.III.3) and maternal garndmother (D.II.15) had balanced t(3;7) Edit
822 3359679_E 46, XY, t(3;7)(p25;p13) pat wife had multiple spontaneous abortions p13       3359679 E.II.7 Family E father (E.I.1) and brother (E.II.5) had same translocation Edit
823 10398433_9_1 42, X, -X, t(7;7)(p13;q22), -11, -15, -17, -18, -19, -19, -20, +4 mar [cryptic del(7)(q22)] acute myeloblastic leukemia - M2 p13 q22   PLANH1/ CUTL1 10398433 9 Mitelman Database, Reference No. 7989 Edit
824 11895793_2545 46, X?, der(14)t(3;14)(q21;q32), der(3)t(3;7)(p21;p13)t(X;3)(q27;q27) diffuse large B-cell lymphoma p13       11895793 2545   Edit
825 7083611_1 46, XY, der(8)t(7;8)(p13;p23) pat unusual facies, cleft palate, inguinal and umbilical herniae, heart murmur, respiratory problems, mentally and developmentally retarded, severe hypotonia, micrognathia p13       7083611, 2679090, 2692511, 10494083 case 1 (Houston) [7083611], case 6 [2692511], case 13 [10494083] trisomy of 7p13-pter; father had balanced t(7;8) Edit
826 Unpublished_14283 46, XY, t(5;7)(p15;p13) autism/pervasive developmental disorder (PDD) p13       14283 data unpublished Edit
827 Unpublished_40 47, XX, +der(7)t(7;8)(p13;p23.2) phenotype not given p13       40 trisomy of 7p13- qter; data unpublished Edit
828 11066076_3_2 47, XX, t(7;12)(q36;p13), +19 [5 mo]
47, XX, t(7;12)(q36;p13), +19 [13 mo]
47, XX, t(7;12)(q36;p13), +19/ 47, XX, t(7;18)(p13;q23) [21 mo]
acute myeloblastic leukemia - M1 p13       11066076, 12939747 3 [11066076], 2 [12939747] Mitelman Database, Reference No. 8756 Edit
829 6535858 46, XX, der(7)(21qter-> 21q22::7cen-> 7qter), der(10)(10pter->10p12::21pter-> 21p11::10p12-> 10qter), der(14)(14pter-> 14q32:), der(21)(14qter-> 14q32::7p13-> 7cen::21p11-> 21q22::7p13-> 7pter) de novo hypertelorism, blepharophimosis, brachydactyly, clinodactyly p13 cen     6535858, 1327590   karyotype was infered from idiogram & description Edit
830 8527384_24_2 46, XX, der(7)del(7)(q21q31)inv(7)(p13q31) uterine leiomyoma p13 q31     8527384 24   Edit
831 2729360_proposita 46, XX, der(6)t(6;7)(q27;p13) mat [assumed] Greig syndrome, dolichocephalic skull, multiple malformations, ventricular septal defect, genital anomalies p13       2729360, 10494083 proposita (IV-6) [2729360], case 14 [10494083] trisomy of 7p13-pter; 10 of 13 indivisuals with t(6;7) in this family had Greig syndrome Edit
832 7542835 46, XX, dup(7)(p13p12.2) mat developmental delay, failure to thrive p13 p12.2     7542835, 10494083 proposita (III-1) [7542835], case 10 [10494083] mother (II-2, IQ=65), maternal grandmother (I-2, mental retardation suspected), brother (III-3, delayed speech and history of balance problems) had same inverted duplication Edit
833 10449919_EL_1 46, XY, dup(7)(p11.2p13) de novo [14]/ 46, XY, del(7)(p11.2p13) de novo [5]/ 46, XY [17] ultrasound showed choroid plexus cyst and echogenic bowel p13 p11.2     10449919 EL   Edit
834 10631135 46, XX, dup(7)(p11.2p13) de novo Russell-Silver syndrome p13 p11.2 AC004988 GRB10/ EGFR$ 10631135, 12384779, 11829489 DP [10631135, 12384779], patient 4 [11829489]; ECACC No. 1082320 (cell line: NB0001) www.ecacc.org.uk Edit
835 10227403_2 47, XX, upd(7) mat, +r(7)(p13q11) pat/ 46, XX, upd(7) mat Russell-Silver syndrome, mental retardation p13 q11     10227403, 10789928, 11483637, 16007665 ref. 6 [16007665] partial isodisomy Edit
836 8397065 46, XX, der(7)t(7;7)(p13;q21)/ 46, XX Wilms tumor p13 q21     8397065 S.T. Mitelman Database, Reference No. 5021 Edit
837 1657374_619 51, XY, +6, +add(7)(p13)x2, +8, +20 Wilms tumor p13       1657374, 10221336 619 Mitelman Database, Reference No. 4169 Edit
838 1657374_771 56, XX, +2, +6, +der(7)t(1;7)(q21;p13), +8, +9, +10, add(11)(q21), +12, +13, +17, +18 Wilms tumor p13       1657374, 10221336 771 Mitelman Database, Reference No. 4169 Edit
839 NIGMS_GM11318 46, XX, t(1;7)(p34.1;p13) phenotypically normal, 1 spontaneous abortion at 11 weeks gestation p13       GM11318 lymphoblast (EBV-transformed) from CCR NIGMS Human Genetic Cell Repository Edit
840 Unpublished_SCH9321 46, XX, t(7;17)(p13;q23) phenotypically normal p13       SCH9321 fibroblast culture: www.uni-marburg.de/h umgen; data unpublished Edit
841 Unpublished_TAVA 46, XX, t(7;15)(p13;p11) Greig cephalopolysyndactyly syndrome p13       TAVA data unpublished Edit
842 2357695_22 47, XY, +8 , t(9;22)(q34;q11) [bone marrow]
47, XY, del(7)(p13), +8, t(9;22)(q34;q11) [peripheral blood]
chronic myeloid leukemia p13 p13     2357695, 8683992 22 [2357695], 14 [8683992] Mitelman Database, Reference No. 3460 Edit
843 11319801_5_1 45, XY, der(5)t(2;5)(p25;q13), der(7)t(7;13)(p13;q?31)ins(7;13)(q22;q?), -13 [2]/ 46, XY, t(2;2;5;12;17)(p25;q23;q31;p13;q12), der(5)t(2;5), der(7)t(1;7)(?;q22), del(13)(q12q32) [6]/ 47, idem, +del(13)(q11) [1] refractory anemia with excess of blasts p13 q22     11319801, 11455985 5 [11319801], 16 [11455985] Mitelman Database, Reference No. 9187 Edit
844 3385745_infant 46, XY, inv(7)(p13q22) lethal type II osteogenesis imperfecta, simian creases, still birth, multiple fractures p13 q22     3385745, 2738906 MCN ID: 19870002-999 mother carried same inversion; www.mcndb.org Edit
845 3385745_mother 46, XX, inv(7)(p13q22) phenotypically normal; son with same inv(7) had lethal type II osteogenesis imperfecta p13 q22     3385745, 2738906 mother, GM09324 GM09324: fibrablast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository Edit
846 14506701_sister1_2 46, XX, +1, der(1;7)(q10;p10), t(7;22)(p13;q11.2)/ 47, idem, +21 polycythemia vera, acute myeloid leukemia p13       14506701 first sister sister of 14506701_sister2 Edit
847 14506701_sister2 46, XX, t(7;22)(p13;q11.2) polycythemia vera p13   BV088063   14506701 second sister, cell line 1193 sister of 14506701_sister1, mother of 14506701_daughter Edit
848 14506701_daughter 46, XX, t(7;22)(p13;q11.2) follicular lymphoma: stage IV p13   AC073115   14506701 daughter of second sister, cell line 1194 daughter of 14506701_sister2 Edit
849 3455851 46, XX, t(7;11)(p13;p15) acute myelomonocytic leukemia - M4 p13       3455851, 3455851, 3169734, 8353806 Ref. 10 [3455851], L-295 [3169734], 17 [8353806]   Edit
850 3950675_2052 45, XX, del(5)(q14q34), -7, +8, der(10)t(10;17)(q22;p1?3), add(12)(p11), -17, -20, der(20)t(7;20)(p13;p1?3), +1-3mar/ 5 related single cell abnormalities anal cancer --> therapy-related myelodysplastic syndrome, therapy-related acute myeloid leukemia p13       3950675 2052 Mitelman Database, Reference No. 1826 Edit
851 6316787_3 46, XX, t(3;7)(p21.1;p13) pat [not karyotyped, but assumed] Greig cephalopolysyndactyly syndrome, died of at 2.5 years of medulloblastoma p13       6316787, 2545596 patient 3 (IV-4) [6316787] sister of 6316787_1 & 2 Edit
852 6316787_1 46, XX, t(3;7)(p21.1;p13) pat Greig cephalopolysyndactyly syndrome, hypertelorism, an extra great toe on each foot, brachycephaly p13   D7S691/ GDB:1317704   6316787, 2545596, 1650914, 1663489 patient 1 (proposita, IV-7) [6316787], 1863 [1650914, 1663489], MCN ID : 19810003-001 sister of 6316787_2 & 3; www.mcndb.org Edit
853 6316787_2 46, XY, t(3;7)(p21.1;p13) pat Greig cephalopolysyndactyly syndrome, hypertelorism, an extra great toe on each foot, extra thumb on each hand p13       6316787 patient 2 (IV-6) [6316787] brother of 6316787_1 & 3 Edit
854 11139542_t(7;9) 46, XY, t(7;9)(p13;p23) infertility, candidate for ICSI p13       11139542 MCN ID: 19850072-114 www.mcndb.org Edit
855 8317486 46, XY, inv(7)(p13q36) mat? phenotypically normal; wife had one normal child and five first-trimester spontaneous abortions p13 q36     8317486 MCN ID: 19930006-999 first cousin (daughter of maternal uncle) and her daughter carried same inversion; www.mcndb.org Edit
856 4077053_t(2;7) 46, XY, t(2;7)(p25;p13) infertility - azoospermia p13       4077053 MCN ID: 19850005-999 www.mcndb.org Edit
857 6235485_lab39 46, XX, inv(7)(p13q11) mat, t(6;18)(q24;q23) pat phenotype not given p13 q11     6235485 balanced autosomal rearrangement from lab 39 amniocentesis Edit
858 6235485_lab46_inv(7) 46, X?, inv(7)(p13q11) mat phenotype not given p13 q11     6235485 balanced autosomal rearrangement from lab 46 amniocentesis Edit
859 6235485_lab33 46, XX, t(7;21)(p13;p11) phenotype not given p13       6235485 balanced autosomal rearrangement from lab 33 amniocentesis Edit
860 ECACC_2062018 46, XX, inv(7)(p13q11.23) de novo phenotype not given p13 q11.23     2062018 (cell line: DD3716) www.ecacc.or.uk Edit
861 657849 46, XX, t(1;7)(p34;p13) phenotypically normal; history of repeated abortions p13       657849, 6297856, 1663489 GM1356 (GM01356) one phenotypically normal son carried same translocation; finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; somatic cell hybrid clone 1356 RAG 12-9: www.uni-marburg.de/h umgen Edit
862 3376998_28M 46, XY, t(7;14)(p1?3?4;q11.2) [1]/ 46, XY [15] phenotype not given p13 p14     3376998, 9779802 28 year-old male wife had multiple spontaneous abortion Edit
863 3376998_22F 46, XX, t(7;14)(p1?3?4;q11.2) [1]/ 46, XX [10] multiple spontaneous abortion p13 p14     3376998, 9779802 22 year-old female   Edit
864 3376998_33F 46, XX, t(7;14)(p1?3?4;q11.2) [1]/ 46, XX [31] multiple spontaneous abortion p13 p14     3376998, 9779802 33 year-old female   Edit
865 3290489_8 46, XY, dir ins(13;1)(q34;p31.2p32.3), t(7;12)(p13;p13) de novo ambiguous genitalia p13       3290489 family 8, proband both translocations arose de novo Edit
866 14999294_38 46, XY, dic(7;9)(p13;p11), der(12)t(9;12)(p11;p13), +21c acute lymphoblastic leukemia p13       14999294 38 Mitelman Database, Reference No. 10554 Edit
867 14999294_39 46, XY, del(6)(q1?5q25), add(7)(p1?3) acute lymphoblastic leukemia p13       14999294 39 Mitelman Database, Reference No. 10554 Edit
868 14999294_40 45, XY, dic(9;12)(p1?3;p1?2)/ 44, idem, der(7)t(7;17)(p1?3;q?21), -17 acute lymphoblastic leukemia p13       14999294 40 Mitelman Database, Reference No. 10554 Edit
869 14999294_42 45, XY, -5, del(6)(q1?5q21), der(7)t(5;7)(q1?3;p1?3) acute lymphoblastic leukemia p13       14999294 42 Mitelman Database, Reference No. 10554 Edit
870 10590047_15 43, X, -X, add(1)(p3?4), t(2;12)(p21;p13), -7, t(7;9)(p13;p22), add(12)(p11), -15 / 46, XY acute lymphoblastic leukemia p13       10590047, 14999294 15 [10590047], 16 [14999294] monosomy of 7p13-qter; Mitelman Database, Reference No. 8391 Edit
871 11920481_5 46, XX, +X, der(7)t(7;15)(p1?3;q1?3), -15 acute lymphoblastic leukemia p13       11920481, 14999294 5 [11920481], 41 [14999294] Mitelman Database, Reference No. 9557 Edit
872 299456_III-4 47, XY, t(7;20)(p13;p12) mat [at diagnosis]
47, XY, +8, t(7;20)(p13;p12)c [6 mo after diagnosis, bone marrow; 9 mo after diagnosis, skin fibroblasts]
acute granulocytic leukemia, sterility p13       299456 proband, case III-4 mother with t(7;20) had died from breast cancer, maternal grandmother died from leukemia, two siblings had t(7;20): case III-2, III-3 Edit
873 7065004_115/80 46, XX, t(2;7)(p25;p13) phenotypically normal p13       7065004 D.G. (115/80) daughter had normal karyotype Edit
874 8078212 46, XX, t(7;11)(p13;p14), 16p+ therapy-related acute non-lymphocytic leukemia -M2 p13       8078212 70-year-old female   Edit
875 MCN_19970011-281 46, XY, inv(7)(p13q21) de novo spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, terminal broadening fingers/clubbing p13 q21     MCN ID: 19970011-281 www.mcndb.org Edit
876 MCN_19870001-089 46, XX, inv(7)(p13q22) pat mental retardation, microcephaly, other cardiovascular defect p13 q22     MCN ID: 19870001-089 www.mcndb.org Edit
877 MCN_20010001-041 46, XX, t(1;7)(p22;p13) .ish 15q11.2(SNRPNx2) Prader-Willi syndrome p13       MCN ID: 20010001-041 www.mcndb.org Edit
878 MCN_19990018-292 46, XX, t(4;6)(p16.1;q21), t(7;10)(p13;q22.3), inv(9)(p24.1q12) mental retardation, Aicardi syndrome, seizures p13       MCN ID: 19990018-292 www.mcndb.org Edit
879 MCN_19970027-224 46, XX, t(1;7)(q31;p13) facies significantly abnormal, mental retardation, depressed nasal bridge, syndactyly of fingers, hypertelorism, umbilical hernia, paresis of ocular muscles/squint, hypotonia p13       MCN ID: 19970027-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
880 MCN_19900001-121 46, XX, t(1;7)(p31.2;p13) de novo mental retardation, behaviour disorder/hyperactivity/p sychosis p13       MCN ID: 19900001-121 www.mcndb.org Edit
881 3857967_830821 46, XY, t(7;11)(p13;q24)/ 46, XY acute lymphoblastic leukemia - L1 p13       3857967, 2910365 830821 [3857967], 13 [2910365] Mitelman Database, Reference No. 2766 Edit
882 MCN_19870002-041 46, XX, t(2;7)(q21;p13) short stature - postnatal p13       MCN ID: 19870002-041 www.mcndb.org Edit
883 MCN_19940003-047 46, XX, t(2;7)(q31;p13) pat facies significantly abnormal, mental retardation p13       MCN ID: 19940003-047 www.mcndb.org Edit
884 MCN_19790002-059 46, XX, t(5;7)(q13;p13) irregular length or shape of toes, mental retardation, large hand, long/large foot (including arachnodactyly) p13       MCN ID: 19790002-059 www.mcndb.org Edit
885 MCN_19970129-224 46, XY, t(5;7)(q22;p13) hypotonia p13       MCN ID: 19970129-224 www.mcndb.org Edit
886 MCN_19940002-049 46, XX, t(7;14)(p13;q24.1) scoliosis, mental retardation, shunt VSD/ASD/PDA, hypertelorism, up-slanting palpebral fissures, skin dimples/pits, short/small nose, short stature - postnatal, hypotonia p13       MCN ID: 19940002-049 www.mcndb.org Edit
887 MCN_19960001-031 46, XX, t(7;16)(p13;q22) cleft hard palate p13       MCN ID: 19960001-031 www.mcndb.org Edit
888 10432932_1 38, XX, -1, del(1)(q11), -2, add(2)(p13), -3, der(4;14)t(4;14)(q35;q11)add(4)(p12), add(6)(p21), add(7)(q22), del(7)(p11.2p13), -8, -9, add(9)(q34), -10, add(10)(q24), -11, -11, ins(12;?)(q13;?), -14, -14, -15, ins(15)(q22;?), add(16)(q22), add(17)(q11), -18, der(18)t(7;18)(q11.2;p11), -19, add(20)(p13), add(21)(p11), -22, add(22)(p11), +6mar endometrial stromal sarcoma p13 p11.2     10432932, 12850374 18 [12850374] Mitelman Database, Reference No. 8121 Edit
889 14740320_C116 46, XY, del(7)(p13p13) cerebral cavernous malformations p13 p13 D7S478/ D7S2427 rs1968075/ rs4724344 14740320 family C116 proband, mother, four siblings, nephew had CCM on MRI, and all of them studied had same deletion Edit
890 14740320_C127 46, XX, del(7)(p13p13) cerebral cavernous malformations p13 p13 rs12108/ rs4724339 rs4724350/ rs11552377 14740320 family C127   Edit
891 14732923_78M_1 45, X, -Y [9]/ 83, XX, -Y, -Y, -1, -3, -4, +7, der(7)add(7)(p13)add(7)(q32)x3, +8, +8, add(8)(p11.2), -9, -10, -11, -14, -17, -18, -22 [5]/ 78, XX, -Y, -Y, -1, -3, -4, -7, -7, +8, +8, add(8)(p11.2), -9, -10, -11, -14, -16, -17, -18, -20, -22 [2]/ 81, XX, -Y, -Y, -3, -4, -7, add(7)(q22), +8, +8, add(8)(p11.2), -9, -10, -11, -13, -14, -17, -18, -22 [3]/ 82, XX, -Y, -Y, -3, -4, -4, der(7)t(7;?;13)(q32;?;q1?2)i(7)(q10), +8, +8, add(8)(p11.2), -9, -10, -11, -13, -14, -17, -18, -22 [3]/ 12 nonclonal cells with related abnormalities non-Hodgkins lymphoma, therapy-related acute myeloid leukemia p13 q32     14732923 78M Mitelman Database, Reference No. 10446 Edit
892 3983641_1_1 46, XX, t(7;14)(q35;q11)/ 46, XX, t(7;14)(p13;q11)/ 46, XX, i(7)(q10)/ 46, XX, inv dup(7)(q35) [PHA-stimulated ] immunodeficiency, growth failure, undefined chromosome fragility syndrome p13 q35     3983641 case 1   Edit
893 3983641_2_1 46, XX, t(7;7)(p13;q35)/ 47, XX, -14, +t(14;14)(q11;q11), +t(14;14)(q11;q11), 46, XX, t(7;14)(p13;q11), 46, XX, inv(7)(p13q35)/ 46, XX, t(7;14)(q35;q11)/ 46, XX, t(14;14)(q32;q11) ataxia telangiectasia p13 q35     3983641 case 2   Edit
894 3983641_2_2 46, XX, t(7;7)(p13;q35)/ 47, XX, -14, +t(14;14)(q11;q11), +t(14;14)(q11;q11), 46, XX, t(7;14)(p13;q11), 46, XX, inv(7)(p13q35)/ 46, XX, t(7;14)(q35;q11)/ 46, XX, t(14;14)(q32;q11) ataxia telangiectasia p13 q35     3983641 case 2   Edit
895 2786436_SUP-T10 46, XY, del(5)(q31), t(7;11)(p13;p13), t(8;12)(q13;p13), t(9;16)(p22;p13), t(17;18)(q11.2;q23), +mar T-cell acute lymphoblastic leukemia p13       2786436 cell line SUP-T10, case 6   Edit
896 10469450_84_3 46, XY, der(4)t(4;12)(q35;q15), der(7)del(7)(p13)del(7)(q32), der(9)t(7;9)(p13;q34), der(11)t(7;11)(q32;q23), der(12)ins(12)(p13q13q15)t(11;12)(q32;q13) [19] pulmonary chondroid hamartoma p13 q32     10469450 84 Mitelman Database, Reference No. 8134 Edit
897 10469450_156 46, XX, der(7)t(7;12)(p13;p11.2)ins(7;14)(p13;q24q11.2), der(12)del(12)(q14q21)t(7;12)(p13;p11.2), del(14)(q11.2q24) [15] pulmonary chondroid hamartoma p13       10469450 156 Mitelman Database, Reference No. 8134 Edit
898 10436383_4 46, XX, t(7;11)(p13;q24) phenotypically normal, four spontaneous abortions p13       10436383 case 4 [Table 2]   Edit
899 12682631_28 4?, XY, t(6;7)(q13;p13), t(6;7)(p21;p13) [partial karyotype] precursor T-cell lymphoblastic leukemia/lymphoma p13       12682631 28   Edit
900 1143322_1-4 46, X?, t(7;14)(p13;q11-12) [1]/ 46, X? [24] nonspecific mental retardation (or phenotypically normal, but first-degree relative had chromosome anomalies) p13       1143322 case 1, 2, 3, 4   Edit
901 1056013_R 46, XY, t(7;14)(p13;q11-12) ataxia telangiectasia p13       1056013, 1143322 case R [1056013], case d [1143322]   Edit
902 9297439_Noel 46, XY, t(7;9)(p13;p25) infertility (45 years) p13       9297439 5 (Noel, personal communication) in Table III, MCN ID: 19940009-999 www.mcndb.org Edit
903 1954385_7_2 46, XX, add(7)(p?13), del(7)(q31q36) [75%]/ 46, XX [25%] Wilms' tumor, acute lymphoblastic leukemia, primitive neuroectodermal tumor --> therapy-related refractory anemia with excess of blasts p13       1954385 7 Mitelman Database, Reference No. 4077 Edit
904 1377008_6 46, XX, t(7;14)(p13;q11), add(18)(q25) T-lineage acute lymphoblastic leukemia p13       1377008 6 Mitelman Database, Reference No. 4071 Edit
905 1377008_14 46, XY, t(1;3)(p22;p13), t(6;7)(q12;p13) T-lineage acute lymphoblastic leukemia p13       1377008 14 Mitelman Database, Reference No. 4071 Edit
906 6467179_33 46, XY, add(1)(p36), del(6)(q15), t(6;10;12)(q15;q22;p13), t(11;14)(q13;q32), del(12)(p?), +der(12)t(7;12)(p13;p13) chronic lymphocytic leukemia p13       6467179 33 Mitelman Database, Reference No.1090 Edit
907 3708160_18_2 46, XY, inv(3)(q21q26), del(7)(q22q36) [70%]/ 46, XY, inv(3), ins(7;?)(?p13;?) [25%]/ 46, XY [5%] [RAEB-T]
46, XY, inv(3)(q21q26), del(7)(q22q36) [100%] [ANLL}
refractory anemia with excess of blasts in transformation --> unclassified acute myeloid leukemia p13       3708160 18 Mitelman Database, Reference No. 1550 Edit
908 8057667_11 45, XX, inv(3)(q21q26), del(5)(q22q33), -7, der(17)t(7;17)(p13;p13)/ 45, idem, i(8)(q10) acute megakaryoblastic leukemia - M7 p13       8057667 11 Mitelman Database, Reference No. 5735 Edit
909 Wakui_ASHG2004 46, X?, t(4;6)(p16.1;q21), t(7;10)(p13;q22.3), inv(9)(p24.1;q12) multiple congenital anomalies, mental retardation p13       subject 4 Wakui et al., ASHG 2004, Program #980 Edit
910 Baty_ASHG2004 46, XY, t(6;7;11;14)(11qter-> 11q13.5::6p23-> 6q23.3::14q32.1-> 14qter; 6pter-> 6p23::7p13-> 7qter; 11pter-> 11q13.5::6q25-> 6qter; 14p13-> 14q32.1::6q23.3→ 6q25::7p13-> 7pter). nuc ish 6p22.3(RP1-130G2-), 6q25.2(RP11-535A9-) IUGR, growth and developmental delay, bilateral epicanthal folds, low nasal bridge, ptosis, ptosis, full lips, short fingers, clinodactyly, hopotonia, anal tag, moypia, low frontal hairline, neck webbing pectus carinatum, ADHD p13         Baty et al., ASHG 2004, Program #969 Edit
911 Kuechler_ESHG2003 46, XX, der(3)t(3;4)(3pter-> 3q22::4q34 or 35-> 4qter), der(4)t(17;4;7)(17pter-> 17p12 or 13::4p14-> 4q34 or 35::7p12 or 13->7pter), der(7)t(3;7)(3qter-> 3q22::7p12 or 13-> 7qter), der(9)t(4;9)(4pter-> 4p14::9q13-> 9pter), der(17)t(9;17)(9qter-> 9q13::17p12 or 13-> 17qter) phenotypically normal p13 -12         Kuechler et al., ESHG 2003, P341 Edit
912 7411307_1 46, XY, der(7)(pter-> p13:: q32-> cen -> q32:: 7p13 -> 7pter) [1]/ other aberration(s) [3]/ 46, XY [43] [age 12]
46, XY, t(7;14)(p13;q11) [1]/ other aberration(s) [5]/ 46, XY [94] [age 14]
ataxia telangiectasia, died from respiratory failure at age 14 p13 q32     7411307 1 brother of 7411307_2 Edit
913 7411307_2 46, XY, inv(7)(p13q32) [1]/ other aberration(s) [8]/ 46, XY [94] [age 7] ataxia telangiectasia p13 q32     7411307 2 brother of 7411307_1 Edit
914 7411307_3_1 46, XY, inv(7)(p13q32) [3]/ 46, XY, t(7;14)(p13;q11) [1]/ other aberration(s) [4]/ 46, XY [42] [age 8] ataxia telangiectasia p13       7411307 3   Edit
915 7411307_3_2 46, XY, inv(7)(p13q32) [3]/ 46, XY, t(7;14)(p13;q11) [1]/ other aberration(s) [4]/ 46, XY [42] [age 8] ataxia telangiectasia p13 q32     7411307 3   Edit
916 2981155_Jha 45, X, -Y, der(3)t(3;14)(q12;q13), t(6;8)(q25;q22), inv(7)(p13q22), der(11)t(3;11)(q13;p15), -14, del(14)(q24), del(15)(q22), del(18)(q22), -19, +2mar/ 46, XY, del(2)(q23), add(3)(p?), add(4)(q?), del(9)(q22), -11, del(14), -15, +2mar Wilms tumor p13 q22     2981155 J. Ha Mitelman Database, Reference No. 1242 Edit
917 12550766_56_2 53, X, -X, +der(1)t(1;2)(p11;p11), +6, +7, +8, +12, +13, +17, +20 [59] [sample 1]
55, X, -X, inv(1)(q32q42), +der(1)t(1;2)x2, +6, del(7)(q32), +ins(7;?)(p13;?), +8, +10, +12, +13, t(15;19)(q22;q12), ?add(17)(q11), +20, ?inv(21)(q11q22) [27] [sample 2]
54, X, -X, inv(1), +der(1)t(1;2)x2, -5, +6, der(7)ins(7;?)del(7)(q32), ins(7;?), +8, +12, +13, t(15;19), +?add(17), +20, ?inv(21), +mar [13] [sample 3]
Wilms tumor p13       12550766 56 Mitelman Database, Reference No. 9917 Edit
918 2018838_5 46, XY, dup(1)(p3?3p35)/ 45, idem, dic(7;9)(p13;p11)/ 45, idem, del(8)(p22) acute lymphoblastic leukemia - L1 p13       2018838 5 Mitelman Database, Reference No. 3848 Edit
919 2018838_6 45, XX, dic(7;9)(p13;p11), -20, +mar acute lymphoblastic leukemia - L1 p13       2018838 6 Mitelman Database, Reference No. 3848 Edit
920 2018838_7 45, XY, dic(7;9)(p13;p11) acute lymphoblastic leukemia - L1 p13       2018838 7 Mitelman Database, Reference No. 3848 Edit
921 2018838_8 45, XX, dic(7;9)(p13;p11) acute lymphoblastic leukemia - L1 p13       2018838 8 Mitelman Database, Reference No. 3848 Edit
922 10572083_25 45, XY, -7, der(19)t(7;19)(p13;p11) acute myeloid leukemia p13       10572083 25 Mitelman Database, Reference No. 8407 Edit
923 752519_IT 46, XX, t(6;7)(q12;p13) Greig syndrome p13   D7S691/ GDB:1317704   752519, 1650914, 1663489 IT   Edit
924 2729360_brother 46, XY, t(6;7)(q27;p13) mat Greig syndrome - macrocephaly with prominent forehead and occiput, bilateral preaxial hexadactyly of feet, short thumbs, normal congnitive and motor development p13       2729360 half-brother (IV-1) [2729360] 10 of 13 indivisuals with t(6;7) in this family had Greig syndrome Edit
925 2729360_mother 46, XX, t(6;7)(q27;p13) mat Greig syndrome - preaxial and postaxial heptadactyly of hands, preaxial hexadactyly of feet; thumbs and first metacarpals were broad and short; normal intelligence and stature; three spontaneous abortions, three malformed offsptings p13   SHGC-144106/ D7S691   2729360, 1650914, 1663489 mother (III-3) [2729360], RoH [1650914, 1663489], MCN ID: 19890022-999 RoH and III-3 are from the same family but may not be the same person; 10 of 13 indivisuals with t(6;7) in this family had Greig syndrome; www.mcndb.org Edit
926 2729360_sister 46, XX, t(6;7)(q27;p13) mat Greig syndrome - macrocephaly with prominent forehead and occiput, bilateral postaxial hexadactyly of hands, preaxial hexadactyly of the left foot, partial cutaneous syndactyly of hands, bilateral mild pes adductus, partial cutaneous syndactyly of feet, normal psychomotor and mental development p13   SHGC-144106/ D7S691   2729360, 1650914, 1663489 half-sister (IV-5) [2729360], RoH [1650914, 1663489], MCN ID: 19890022-999 RoH and IV-5 are from the same family but may not be the same person; 10 of 13 indivisuals with t(6;7) in this family had Greig syndrome; www.mcndb.org Edit
927 12763927_1_1 80, XXY, der(1;13)(q10;q10), t(2;17;7)(p23;q23;q22), del(3)(p25), +der(3)t(3;15)(p21;q11)t(1;15)(q25;q21), +5, der(5)t(5;8)(q33;q22)x2, +del(6)(q?21), +der(7)t(3;7)(?;q11)t(1;3)(q25;?)del(1)(q25q44), +der(7)t(7;11)(q11;p11), +der(7)t(7;17), der(9)t(9;11)(p23;?q23), der(11)t(7;11)(p13;p14), +der(12)t(2;12)(p1?3;q21)t(2;7)(p23;q22), del(14)(q?13q24), der(15)t(1;15)(q25;q22), +der(17)t(2;17)(p23;q23), +18, +19, +der(20)t(3;20)(?p25;q12), +21 diffuse large B-cell lymphoma p13       12763927 1 Mitelman Database, Reference No.10372 Edit
928 9373267_89 46, XX, t(12;15)(p13;q21)/ 46, XX, t(7;12)(p13;p13) early pre-B acute lymphoblastic leukemia p13       9373267 89 Mitelman Database, No. 7207 Edit
929 1878594_2 46, XY, inv(7)(p13q36) T cell acute lymphoblastic leukemia - L1 p13 q36     1878594 2 Mitelman Database, No. 4010 Edit
930 6316787_father 46, XY, t(3;7)(p21.1;p13) pat polysyndactyly, but otherwise normal p13       6316787, 2545596 father (III-2) father of 6316787_1, 2 & 3; father (III-1) and aunt (II-2) had polysyndactyly and same translocation Edit
931 11746988_15_3 45, XX, t(3;6)(q26;q25), der(7)del(7)(p11.2)del(7)(q22), der(11)t(7;11)(p?13;p10)dup(11)(q23q12), der(16)t(16;22)(q22;q11.2), der(19)t(19;22)(q13;q11.2), i(20)(p10), -22 acute myeloblastic leukemia - M1 p13       11746988 15 Mitelman Database, Reference No. 9309 Edit
932 11979548_16 43-46, XX, del(5)(q13q33), -7, der(8)t(8;11)(q24;?)t(11;11)(?;?p13)ins(11;11)(?p13; q13q2?5), der(11)(p15q13q2?2q25), der(12)t(7;12)(p13;p11), del(18)(q12q23), +mar acute myeloid leukemia p13       11979548 16 Mitelman Database, Reference No. 9492 Edit
933 15771907 46, XX, t(2;7)(p13;p13) [3]/ 46, XX [17] plantar fibromatosis p13       15771907   Mitelman Database, Reference No. 10778 Edit
934 15588849_3_2 43-44, XY, dic(1;11)(q10;p11), der(3;19)(q10;q10), ins(4;?)(p14;?), del(6)(q15), i(6)(p10), +i(6)(q10), i(8)(q10), -11, -12, der(13;14)(q10;q10), -14, del(16)(q13), -17, -18, -19, -21, +der(?)t(?;1)(?;p22), +1-2mar [cp26]/ 45, Y, add(X)(q13), del(1)(p13), der(1)t(1;7)(q44;p15), t(2;9)(p11;q34), der(7)t(1;7)(p13;p13), der(13)t(13;14)(p11;q13), -14/ 45, XY, t(11;18)(q23;q21), t(12;16)(q11;p11), der(13)t(13;14)(p11;q13), -14 [8] [primary tumor]
40-44, XY, dic(1;11), der(3;19), ins(4;?), del(6), i(6)(p10), +i(6)(q10), i(8)(q10), -11, -12, der(13;14), -14, del(16), -17, -18, -19, -21, +der(?)t(?;1), +1-2mar [cp15]/ 46, X, t(Y;6)(q12;q21), t(1;7)(p36;p15), add(5)(p13), inv(7)(p13q36), t(8;9)(q22;q34), del(10)(p13), add(11)(p15), t(12;19)(q15;q13) [26] [local recurrence]
squamous cell carcinoma of the tongue p13 q36     15588849 3 Mitelman Database, Reference No. 10815 Edit
935 16317299_1 46, XX [amniocentesis]
45, XX, -7 [20] [bone marrow, 18 & 24 m.o.]
47, XX, add(2p), +20 [70%]/ 45, XX, -7 [10%]/ 46, XX [20%] [hepatoblastoma]
46, XX, add(15). ish der(15)t(7;15)(p13-14;q22-23) [33%]/ 46, XX [67%] [skin, 30 m.o.]
intrauterine growth retardation, sparse hair, upslanting palpebral fissures, simple folded ears, pointed chin, triangular face, long fingers, mild clinodactyly of 5th fingers (suspected of Russell-Silver syndrome); postnatal failure to thrive, pancytopenia, myelodysplasia, hepatoblastoma (diagnosed at 21 m.o.), mild joint hypermobility, generally reduced muscle mass p13 - 14       16317299   trisomy of 7p detected by FISH (seen in only skin fibroblast) Edit
936 16382447_1_2 46, XY, i(7)(q10) [12]/ 46, XY [8] [Nov/99, BM]
46, XY, i(7)(q10) [21]/ 46, XY [14] [Jul/00, BM]
46, XY, inv(7)(p13q21) [7]/ 46, XY [143] [Jul/00, PB-PHA]
46, XY, i(7)(q10) [20]/ 46, XY [10] [Jul/01, BM]
46, XY [158] [Jul/01, PB-PHA]
46, XY [50] [Jun/02, Skin]
Shwachman syndrome (without MDS/AML) p13 q21     16382447 UPN 1 SBDS mutation (+) Edit
937 16213365 46, XX, der(6)t(6;7)(q11;?), der(7)del(7)(?p13)t(6;7)(q?;q11)t(6;13)(q?; q?), der(13)t(7;13)(p13;q14) [5] [revised by SKY] refractory anemia with excess of blasts p13 q11     16213365   PURB (7p13) might be involved in der(13)t(7;13); Mitelman Database, Reference No. 11221 Edit
938 15039973_DD8603631 46, XY, t(2;7)(q32.2;p13) mat phenotype not given; prenatal diagnosis was done p13       15039973 DD8603631   Edit
939 15039973_DD9704552 46, XY, t(7;19)(p13;p13.1) abnormal phenotype p13       15039973 DD9704552   Edit
940 15039973_DD7600959 47, XY, +der(4)t(4;7)(p16;p13) mat reproductive difficulties p13       15039973 DD7600959 trisomy of 7p13-pter Edit
941 15039973_DD0200787 46, XX, inv(7)(p13q11.23) de novo abnormal phenotype p13 q11.23     15039973 DD0200787   Edit
942 15039973_DD8604904 46, XX, inv(7)(p13q22) mat phenotype not given; prenatal diagnosis was done p13 q22     15039973 DD8604904   Edit
943 9703427_B 46, XY, ins(7;?)(p13;?). ish ins(7;?)(p13;-s)(wcp 1-, 7-, 13-, 14-, 15-, 21-, 22-, D1Z3-, D1Z7-, all-α-s-, acrocentric -s+) mat developmental delay, feeding difficulties, growth delay, triangular face, frontal bossing, broad small nose, down-turned mouth, small head, clinodactyly of 5th fingers, p13       9703427 case B phenotypically normal mother had same insertion; insertion of beta-satellite DNA into the short arm Edit
944 Yilmaz_ESHG2005 46, XY, t(7;10)(p13;q11.2) de novo Greg syndrome: polysyndactyly of hands & feet, minor dysmorphic facies, agenesis of the corpus callosum p13       9-month-old male Yilmaz et al., ESHG, 2005, #P0298 Edit
945 16364762_27 45, X, -X, t(2;15)(q12;q15) [19]/ 47, XX, +X, del(13)(q13q33) [4]/ 46, XX, t(2;3)(q12;q21)/4 6, XX, t(7;8)(p13;q13) [5] squamous cell carcinoma of the oral cavity - tongue p13       16364762 27 Mitelman Database, Reference No. 11284 Edit
946 1543296 der(7)t(3;7)(q?;p13) mat   p13       1543296, 10494083 10494083 [case 15]   Edit
947 DGAP_147 46, XX, t(7;13)(p13;q34) at three months presented with hypotonia, tachypnea and poor feeding; diaphragmatic hernia (surgically repaired); severe eczema; dysmorphic features including prominent ears, upturned pointed nose, high palate, abnormally shaped mouth, small chin, downslanting palpebral fissures, and sparse eyebrows; bilateral hip dislocation and talipes; moderate learning disabilities; generalized seizure at 11 months, responded to valproate, at 7 years seizure free; muscle dysfunction/d ystrophy; significant constipation p13       147 http://www.bwhpathology.org/d gap/ Edit
948 1483693 47, XX, + mar de novo [+der(7)t(X;5;7)(p22.1;q35;p13q21) detected by FISH] mental retardation, short stature, short palpebral fissures, convex/beaked profile of nose, small mandible/micrognathia, single palmar crease, high palate p13 q21     1483693 PL trisomy of p13-q21 Edit
949 8418369_49_1 46, XY, der(5)t(5;7)(q12;q32), der(7)inv(7)(p13q32)t(5;7) acute lymphoblastic leukemia - L1 p13 q32     8418369 49 Mitelman Database, Reference No. 4743 Edit
950 8418369_54 46, XX, der(7)t(7;9)(p13;q12) acute lymphoblastic leukemia - L2 p13       8418369 54 monosomy of 7p13-pter; Mitelman Database, Reference No. 4743 Edit
951 8418369_55 47, XY, +X, t(7;11)(p13;q21), -21, +mar acute lymphoblastic leukemia - L2 p13       8418369 55 Mitelman Database, Reference No. 4743 Edit
952 17160895_186 del(7)(p13p13) cerebral cavernous malformation p13 p13 rs12667775/ rs12667371 rs11771107/ rs10085574 17160895 families 186, 224, 238, 249, 302, 307, 312, 3607 deletion spans exons 2-10 of CCM2; proximal breakpoint lies in intron 1 (19.4 kb proximal to exon 2) and distal breakpoint lies 19.2 kb distal to exon 10 of CCM2 Edit
953 17160895_219 del(7)(p13p13) cerebral cavernous malformation p13 p13   rs6949409/ rs2107732 17160895 family 219 exon 1 of CCM2 deleted Edit
954 17160895_32 del(7)(p13p13) cerebral cavernous malformation p13 p13   rs2107732/ rs6971403 17160895 families 32, 245 exons 1 -2 of CCM2 deleted Edit
955 17160895_202 del(7)(p13p13) cerebral cavernous malformation p13 p13 rs6949409/ rs2107732 rs2107732/ rs6971403 17160895 families 202, 326 exon 2 of CCM2 deleted Edit
956 17160895_254 del(7)(p13p13) cerebral cavernous malformation p13 p13 rs11552376/ rs6943576 rs17172336/ rs11977608 17160895 family 254 exons 5 -6 of CCM2 deleted Edit
957 15190256_34_1 46, XX, t(9;22)(q34;q11) [11]/46, idem, del(7)(p11p13) [7]/ 46, XX [2] [before Cx]
46, XX, t(9;22)(q34;q11) [2]/46, idem, del(7)(p11p13) [11]/ 47, XX, +8 [1]/ 46, XX [4] [11 mo after Cx]
46, XX, del(7)(p11p13), t(9;22)(q34;q11) [4]/ 47,XX,+8 [5]/ 46,XX,del(7)(q11) [3]/ 46, XX [8] [17 mo after Cx]
chronic myeloid leukemia p13 p11     15190256 34 Mitelman Database Reference No. 10684 Edit
958 15059141_24 46, XY, t(9;22;16;16)(q34;q11.2;q12;q22) [17]/ 46, idem, t(2;7)(q13;p13) [2] chronic myeloid leukemia, variant Ph translocation p13       15059141 24 Mitelman Database Reference No. 10572 Edit
959 16956820_16 46, XY, t(7;9)(p1?3;p2?2) [30]/ 46, XY [4] T-cell acute lymphoblastic leukemia p13       16956820 16 Mitelman Database, Reference No. 11684 Edit
960 18252227_SK0152-003 373J21-), del(7)(p15.3p21.1)(RP11-445O1-,R P11- Autism Spectrum Disorder, LOF 31, moderate/severe receptive/expressive language delay, severely unintelligible speech, moderate repetitive behaviour, hypotonia affecting FM & GM development p13       18252227 SK0152-003   Edit
961 19878743_10 46, X?.arr 7p14.1p13(37,663,445-44,521,8 33)x1 de novo severe mental retardation, hypotonia, bifid thumbs, feeding difficulties,b ilateral renal hypoplasia, mega ureter,vesicoureteral reflux, renal insufficiency, cutis laxa, facialdysmorphism, cerebral atrophy p13 p14 RP11-52M17   19878743 P10   Edit
962 18941867_8 4?,XX.arr +7p12p13, −18q, −X adult infratentorial glioma, anaplastic astrocytoma p13 p12     18941867 Case 8 7p gain detected in 5 of 11 cases (45%) Edit
963 22549442_7 45,XY,der(7),t(7;9)(p13;q12),- 9 Acute myeloid leukemia p13       22549442     Edit
964 DGAP011 46, XY, t(7;8)(p12.3;p11.2) Kallmann syndrome - hypogonadotropic hypodonadism (atrophic testes, azoospermia), cleft lip and palate, no anosmia p12.3   rs11766862/ rs4724565   16061567 DGAP011 breakpoint at 7p lies in intron 15 of TENS1, but disruption of this gene does not seem to contribute to the patient's abnormalities; http://www.bwhpathology.org/d gap/ Edit
965 Maloney_ESHG2005_1 46, XX, inv(7)(p13q11.23) de novo short palpebral fissures, overlapping fingers, feeding difficulties p12.3 q11.23 RP11-21H20/ RP4-815D20 RP11-575M4 first patient, 2-month-old female AUTS2 may be disrupted; Maloney et al., ESHG, 2005, #P0367 Edit
966 18424204 47E14-)mat left renal agenesis, right low functional kidney, altered chemical-clinical parameters, neutropenia, recurrent pulmonary infections, long bone diaphysis broadening, growth and developmental delay, microcephaly, one palmar sulcus in right hand, few and thin hairs, attention deficit and behavioral difficulties, gastroesophageal reflux, urinary tract infections p12.3   RP11-16L13/R P11-194H16   18424204 propositus TNS3 gene disrupted Edit
967 18722879 45,XY,dic(7;12)(p12.21;p12.2)[30]/4 6,XY,del(7)(p11),d el(12)(p11)[5] acute myeloid leukemia-M1 p12.21   RP11-875O24   18722879   ~50Mb deleted Edit
968 10893502_1 46, XY, inv(7)(p12.2q31.3) de novo autism p12.2 q31.3   CFTR/ D7S643 10893502 case 1 (III:3) [10893502], ECACC No. 82411 (cell line: BD2963) maternal uncle (II:1) had Asperger syndrome; first cousin (III:1) had specific disorders of speech and language (SDDSL); www.ecacc.org.uk Edit
969 ECACC_92020506 46, XX, t(7;11)(p12.2;q25) phenotypically normal p12.2       92020506 (cell line: BO0324) www.ecacc.org.uk; data unpublished Edit
970 ECACC_95032230 46, XX, t(7;11)(p12.2;p14.2) mat ?intersex, large girl with very prominent clitoris/phallus p12.2       95032230 (cell line: DD2233) www.ecacc.org.uk; data unpublished Edit
971 15733271_1 46, XY, inv(3)(p24q24), t(5;7)(p15.2;p12.2). ish del(3)(p24.3p24.3)(RP11-255O19-), del(5)(p15.2p15.31)(RP11-79G1-, RP11-91M12-), del(18)(q12q12)(RP11-90B5-) de novo autism, developmental delay, hypotonia, seizures, mild dysmorphism p12.2       15733271 Subject 1 older sister (Subject 2) had autism, but normal karyotype Edit
972 11380473 t(3;7)(q27;p11-13) non-Hodgkin's lymphoma - diffuse large B-cell lymphoma p12.2   ZNFN1A1$   11380473   ZNFN1A1 fused to BCL6; Mitelman Database, Reference No. 9205 Edit
973 9648553_2 45, X, -Y, t(3;7)(q27;p12), del(6)(q21q25), +16, -21 [20] diffuse large B-cell lymphoma p12.2   ZNFN1A1$   9648553, 10753856 patient 2 (U.O.) ZNFN1A1 (ikaros) was fused to BCL6 (3q27); Mitelman Database, Reference No. 7536 & 8620 Edit
974 16041583_4 46, XY, t(7;10)(p12.2;q26.3) pat [dup(10)(q21.1q23.31) detected by CGH] mental retardation, short stature, facial dysmorphism, obesity, micropenis, undescended testes, microcephaly, speech delay, delayed skeletal age p12.2   RP11-813K3   16041583 case 4 (PC) father had same translocation but not dup(10) Edit
975 15039973_DD9405972 46, XX, t(7;11)(p12.2;p14.2) mat abnormal phenotype p12.2       15039973 DD9405972   Edit
976 19625284_3 46,XY,inv(3)(p24q24),t (5;7)(p15.1;p12.2).arr 3p24.3p25(15,780,358-15,940,6 42)x1 de novo,5p15.2(9,334,790-11,738,7 91)x1 de novo autistic disorder, moderate intellectual disability, macrocephaly, large stature, craniofacial dysmorphisms, systemic congenital anomalies, epilepsy p12.2       19625284 Subject 3   Edit
977 15083169 46, XY, t(2;7)(p11.2;p12.1) pat Brody disease p12.1   RP11-175C14   15083169 proband (III:1), MCN ID: 20040008-999 father (II:2), paternal aunt (II:3) and paternal grandfather (I:1) had same translocation and were all affected; www.mcndb.org Edit
978 16825763_7 46, XX, idic(7)(p11.2), del(10)(p12), t(12;16)(q13;p11) myxoid liposarcoma p12.1 p11.2 RP11-598O8/ RP!1-266F12 RP11-760D2/ RP11-10F11 16825763 6 [Mandahl et al, 1994], 7 [16825763] two breakpoints of idic(7) were detected at 7p11.2; first reported by Mandahl et al, 1994, Int J Oncol 4, 307-310; Mitelman Database, Reference No. 5546 & 11532 Edit
979 21302340_28 4?,XY.arr 7p12.1(51,621,194–53,629,6 84)x3,10p11.21(35,391,930–35,5 37,418)x3 pat ASD, mental retardation p12.1 p12.1     21302340 case 28 ~2Mb duplication encompasses DKFZp564N2472; NCBI build 36.1 Edit
980 8166428 46, XY, der(10)t(7;10)(p12;p15) de novo hypertelorism, ventricular septal defect, bilateral cleft lip/palate, hypospadias, imperforate anus, cryptorchidism, cardiac anomalies p12       8166428, 8839888, 10494083 Ref. 14 [8839888], case 9 [10494083] trisomy of 7p12-pter Edit
981 7449184 46, XX, t(7;12)(p12;p13) multiple spontaneous abortions - six out of 12 pregnancies p12       7449184   she had normal six children, and three of them had same translocation Edit
982 Unpublished_18461 ?, XY, t(6;7)(q27;p12) possible leukemia p12       18461 data unpublished Edit
983 Schwartz_A0276 46, XY, der(3)t(3;7)(p26;p12) mat, 9qh+ microcephaly, turricephaly, hypertelorism, lowset and dysplastic ears, prominent and wide nasal bridge, heart murmur, unilateral cryptorchidism, decreased range of motion p12         Schwartz et al, abstarct, A0276 Edit
984 8616020_25_2 45, X, -X, t(8;21)(q22;q22), del(9)(q11;q21) [3]/ 45, idem, del(7)(q31q33-35) [4]/ 45, idem, t(7;15)(p12;p11) [4] acute myeloblastic leukemia - M2 p12       8616020 25 Mitelman Database, Reference No. 6510 Edit
985 Unpublished_17298 46, XY, inv(7)(p12p22) unknown phenotype p12 p22     17298-AFC data unpublished Edit
986 2606480 46, XX, inv(7)(p12q11.23) de novo Zellweger syndrome; hypotonia, high and bossed forehead, wide anterior fontanel, narrow palpebral fissures, short nose with depressed nasal bridge, malformed large ears, micrognathia, heart defects p12 q11.23     2606480     Edit
987 7449183_2 46, XX, t(X;3;7;21)(Xpter-> q27::3p11-> pter; 3p11-> q12::7q21-> qter; 7pter-> p12::q21-> 3q12-> qter; Xq28::21q21-> p12::q21->qter) de novo mental retardation, brachycephalic, flat facies, low-set incompletely outfolded ears, depressed nasal bridge, shortened uvula, four toes on the right foot, severe psychomotor delay, mild generalized hypotonia p12 q21     7449183 GD, MCN ID: 19800001-999 www.mcndb.org Edit
988 NIGMS_GM12592 46, XX, t(3;7)(p26;p12) phenotype not given p12       GM12592 fetus; fibrablast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository; http://locus.umdnj.edu/n igms/ Edit
989 11455985_2_1 43, X, dic(Y;22)(p11;p11), r(3)(p25q27), -7, der(12)t(12;14)(p13;q11), -14 [1]/ 45, XY, r(3)(p25q27), del(5)(q11q35), der(7)t(7;18)(p?12;q?12), dic(17;22)(p12;p11), -18 [6]/ 45, idem, del(17) [2] acute myeloid leukemia p12       11455985 2 Mitelman Database, Reference No. 9187 Edit
990 6392555_1 46, XY, inv(1)(q25q42), inv(7)(p12q31.2) pat floppy baby with cerebral palsy p12 q31.2     6392555 case 1 [6392555] father and sister carried both inversions Edit
991 11522249 46, X?, t(7;14)(p12;q11) prenatal diagnosis, phenotype not given p12       11522249     Edit
992 7065008_2 46, XY, t(7;20)(p12;q11) mat growth retardation, severe hypertonia with hyperactive reflexes, dilated cerebral ventricles with cortical atrophy, peculiar cry, nystagmus, seizures; prominent occiput, microcephaly, abnormal ears, cutis marmorata (marbled skin), narrowly arched palate, micrognathia; feeding difficulty p12       7065008 patient 2 (GVHO92767); MCN ID: 19820006-999 phenotypically normal mother and maternal grandmother had same translocation; www.mcndb.org Edit
993 14999294_35 46, XX, add(7)(p1?2), add(19)(p13) acute lymphoblastic leukemia p12       14999294 35 Mitelman Database, Reference No. 10554 Edit
994 11920481_3 45, XX, t(4;5)(p14;q1?4), del(6)(q16q26), add(7)(p12), add(12)(q13), -18 acute lymphoblastic leukemia p12       11920481, 14999294 3 [11920481], 36 [14999294] Mitelman Database, Reference No. 9557 Edit
995 3538996_ST2b 46, X?, inv(7)(p12q35) de novo abnormal phenotype p12 q35     3538996 ST2b   Edit
996 MCN_19800001-293 46, XY, t(4;7;15)(q21.1;p12;q26), del(11)(p12p14) hypospadias/e pispadias, mental retardation, aniridia, undescended/e ctopic testes, glaucoma/buphthalmos, short stature - postnatal p12       MCN ID: 19800001-293 www.mcndb.org Edit
997 MCN_19990002-037 46, X, t(X;7)(q13;p12) short stature - postnatal p12       MCN ID: 19990002-037 www.mcndb.org Edit
998 7923082 46, XX, der(3)t(3;7)(p12;p12), der(6)t(3;6)(6;7)(p12;p21q21;q22), der(7)t(6;7)(7;6)(q12;p13q22;p21), inv(17)(p12q11)c [17]/ 46, XX, inv(17)(p12q11)c [6] low-grade endometrial stromal sarcoma p12 q22     7923082, 10335941, 10432932, 12850374 11 [10335941], 8 [10432932, 12850374] Mitelman Database, Reference No. 5606 Edit
999 12810258_5579 41, X, -Y, der(1)t(1;7)(p32;p12), der(5)(p14), -7, -14, -18, -22 meningioma, grade II-III p12       12810258 T5579 Mitelman Database, Reference No. 10151 Edit
1000 7987800_35_1 101-107, XX, der(X;6)(p10;p10)x2, del(2)(p22), t(2;3)(q35;q29), der(3)t(3;22)(p22;q12)x3, +del(4)(q25q34), del(5)(q22q24)x2, +der(5)t(1;5)(q22;q13), +dup(6)(p2?1p12), +7, +der(7)t(7;7)(q21;p12), +add(9)(q21)x2, der(9)t(4;9)(q34;q21)x2, der(9;20)(p10;p10)x2, -10, -10, +ins(11;?)(q12;?), t(11;14)(p13;q11), +12, del(13)(q14q31)x2, del(14)(q21q31), +21, +21, +der(22)t(18;22)(q12;q12)x2, +mar peripheral T-cell lymphoma p12 q21     7987800 35 (L114/87) Mitelman Database, Reference No. 5593 Edit
1001 827899 45, XY, der(7;22)t(7;22)(p12;p13)t(9;22)(q23;q12), t(9;22) chronic myeloid leukemia p12       827899   Mitelman Database, Reference No. 239 Edit
1002 10640979_36_2 46, XY, der(1)inv(1)(p21p?36.1)inv(1)(p?36.1p31), t(6;7)(p?23;q?23), del(7)(p12p12) [cp4]/ 46, Y, t(X;17)(q13;q21), t(2;6)(p21;q13), del(7)(q34), inv(7)(p22q11.2), t(15;17)(q10;q10), t(18;19)(q11.2;q13.3) [cp3] meningioma of the brain p12 p12     10640979 36 Mitelman Database, Reference No. 8428 Edit
1003 9454771_4 45, XY, t(7;12)(p12;p13), -13 acute lymphoblastic leukemia - L2 p12       9454771 4 Mitelman Database, No. 7269 Edit
1004 12393409_2 4?, X?, t(3;7)(q27;p12) [cryptic] Hodgkin disease, lymphocyte predominance p12     12393409 2   Edit
1005 12946992_12 40, XX, -2, -3, -5, der(6;16)t(6;16)(q16;p13)t(2;16)(?;q24), r(7)(p12q11), i(11)(q10), der(12)t(12;21)(p12;q?)t(3;21)(p22;?), -13, der(15)t(3;15)(q21;p10), der(17)t(13;17)(q11;p12), der(21;22)(q10;q10) refractory anemia with excess of blasts p12 q11     12946992 12 Mitelman Database, Reference No. 10456 Edit
1006 15674412_23 47, XY, t(7;14)(p12;q24), del(9)(q21q31), +10 [16]/ 46, XY [4] T cell acute lymphoblastic leukemia p12       15674412 23 Mitelman Database Reference No. 10935 Edit
1007 15949565_6_2 rev ish enh(1q21q24, 7p21pter, 7p12q22, 7q36qter, 16q24, 17q25, 19p13pter), dim(8p22, 9p13p24) [CGH] sacral chordoma p12 q22     15949565 6   Edit
1008 9648553_1 47, XY, t(3;7)(q27;p12), +12 [20] diffuse large B-cell lymphoma p12       9648553, 10753856 patient 1 (T.T.) Mitelman Database, Reference No. 7536 & 8620 Edit
1009 15618963_1 46, XX [18]/ 46, XX, t(7;12)(p12;q13) [12] refractory anemia with excess of blasts p12   RP11-109E09/ RP4-673M15   15618963 1 breakpoint region (~11 Mb) includes CDC10, RALA and GLI3; partner gene - HMGA2 (12q14); Mitelman Database, Reference No. 10916 Edit
1010 2340488_10 43, XX, -5, -7, -12, der(17)t(7;17)(p12;p11) [14]/ 46, XX [1] [blood] refractory anemia with excess of blasts p12       2340488 10 Mitelman Database, Reference No. 3375 Edit
1011 16337868_1 46, XX, t(9;22)(q34;q11) [13]/ 45, XX, -7, +der(7;22)t(7;22)(p12;q11)ins(7;9)(p12;q34q34), der(9)t(9;22)(q34;q11), -22 [1] [at diagnosis]
45, XX, -7, +der(7;22)t(7;22)(p12;q11)ins(7;9)(p12;q34q34), der(9)t(9;22)(q34;q11), -22 [12] [after Cx]
chronic myeloid leukemia p12       16337868 1 Mitelman Database, Reference No. 11268 Edit
1012 15339680_2 43, -X, Y, +del(2)(q33), der(3)t(3;?;1)(q27;?;q21), add(4)(p16), del(7)(p12), -11, -21 [1]/ 46, XY [12] [at diagnosis, 1992]
92, XX, YY, +del(Xq26), del(2)(q33), der(3)(3pter-> 3q27::7p12-> pter::3q27->3q27::7p12-> 7p12::1q21-> 1qter), der(4)t(4;5)(p16;q31), -5, -5, del(6)(q13), der(7)t(3;7)(q27;p12), del(10)(q21), del(12)(q22), del(18)(q12), -20, -21 [1]/ 46, XY [19] [at relapse, 2000, revised by FISH & M-FISH]
nodular lymphocyte-predominant Hodgkin's lymphoma p12       15339680   breakpoint at 7p12 likely located proximally to Ikaros gene Edit
1013 16616106_47 46, XY, t(7;21)(p12∼13;q22) [26] acute lymphoblastic leukemia, de novo p12-13       16616106 47 Database Reference No. 11416 Edit
1014 16956820_25 45, XX, dic(7;8)(p12;p12) [7] T-cell acute lymphoblastic leukemia p12       16956820 25 Mitelman Database, Reference No. 11684 Edit
1015 Ebrahim_ASHG2008 47,XY,r(7)(p12q21.2),+ neo(7)(pter->p14->neo->p14->p12::q21.2->qter)[20].ish r(7)(D7Z1+,WCP7+,ELN+,pter-,q ter-),+neo(7)(D7Z1-,WCP7+,E LN- ,pter+,qter+) developmental delay, neocentromere formation p12 q21.2       Ebrahim et al., ASHG 2009, Program #1054/W Edit
1016 18406869_B1_2 47~50,X,−X,+6,+ der(7)t(7;8)(p1?1.2;q11.2),+9,+ 10,+12,der(16)t(1;16)(q1?1;q1?2.1)[cp12]/5 1~55,X,−X,+6,+i(7)(q10),i (8)(q10),+9,+10,+12,d er(16)t(1;16)(q1?1;q1?2.1)[cp2]/4 6,XX[12].arr(1q21)x3,( 7p12qter)x3,( 8p11.2qter)x3(16q12.1)x1 Wilms tumor, Mulibrey nanism syndrome p12 qter     18406869 B1   Edit
1017 22987336 46,XY.arr 7p12 (47,034,222-52,175,6 39)x3 de novo [hg19] postnatal overgrowth, developmental delay, microcephaly, seizures, hypopigmented macules, large ears p12 p12     22987336   5.1 Mb duplication; discussion of GRB10 as candidate gene Edit
1018 22549442_4 46,XY,t(1;4)(q31;q31),t (6;21;8)(q22;q22;q22),d el(7)(p12p21) Acute myeloid leukemia p12 p21     22549442     Edit
1019 Unpublished_14287 46, XY, del(7)(p11.2p11.2) or 46, XY, 7ph+ PDD, repetitive behaviours (stacking blocks), frontal lobe seizures, orotic aciduria, hyper beta-alaninemia, mild receptive speech delay, asthma p11.2 p11.2     14287 unaffected mother has same deletion; karyotype is questionable; data unpublished Edit
1020 1981052_IR_1 46, XY, t(7;20)(p11.2;p11.2)del(7)(p11.2p13) de novo Greig cephalopolysyndactyly syndrome, hypertelorism, severe psychomotor retardation, spasm and epileptic seizures, hirsutism of the face, back and legs p11.2   D7S2542/ SEC61G$   1981052, 7521123, 9520255, 11484201, 16829355 IR [1981052], case 1 [7521123], D [11484201, 16829355] first reported by Rosenkranz et al, 1989, Cytogenet Cell Genet 51:1069 Edit
1021 Unpublished_14822 46, XX, inv(7)(p13q32) difficulties with visual, fine perception and gross motor skills p11.2 q32 RP11-832H18 RP11-617C20 14822 data unpublished; RP11-617C20***SEQUENCING IN PROGRESS***; molecular cytogenetic data is not consistent with karyotype Edit
1022 12384779_AG 46, XY, inv(7)(p11.2q11.21) Russell-Silver syndrome p11.2 q11.21 D7S1618/ D7Z2 D7Z1/ sWSS3627 12384779 AG   Edit
1023 12384779_AM 46, XX, inv(7)(p11.2q22) post-natal growth retardation p11.2 q22 D7S1618/ GDB:1317186 D7S477/ D7S518 12384779 AM   Edit
1024 12384779_PW 46, inv(7)(p11.2q36) post-natal growth retardation p11.2 q36 D7S1618/ D7Z2   12384779 PW   Edit
1025 3708158_25 46, XY, +der(1)t(1;7)(p11.2;p11.2), -7 refractory anemia with ring sideroblasts p11.2       3708158, 3060251, 1591707 25 [3708158], 23 [3060251] Mitelman Database, Reference No. 1551 Edit
1026 3708158_26 46, XX, +der(1)t(1;7)(p11.2;p11.2), -7 refractory anemia with excess of blasts p11.2       3708158, 3060251, 1591707 26 [3708158], 24 [3060251] Mitelman Database, Reference No. 1551 Edit
1027 3708158_28 46, XY, der(7)t(7;9)(p11.2;p11.2) refractory anemia with excess of blasts p11.2       3708158 28 Mitelman Database, Reference No. 1551 Edit
1028 8326501 46, XY, t(7;15)(p11.2;q11.2) mat congenital nystagmus; wife had multiple spontaneous abortions p11.2       8326501 IV-3 mother (III.2) had same translocation and congenital nystagmus, and maternal grandfather (II) and his father (I.1) had congenital nystagmus Edit
1029 3290489_3 46, XX, t(7;14)(p11.2;q13), t(11;12)(p11.2;q13.1) mat intrauterine growth retardation p11.2       3290489 family 3, proband mother, maternal aunt had same double translocations and history of spontaneous abortion; mother also had sibs with either t(7;14) or t(11;12) Edit
1030 14999294_30 47, XX, +5, del(6)(q13q21), add(7)(p11.2), dic(9)(p12), del(14)(q22q24) acute lymphoblastic leukemia p11.2       14999294 30 Mitelman Database, Reference No. 10554 Edit
1031 14999294_32 45, XX, dic(7;9)(p11.2;p13) acute lymphoblastic leukemia p11.2       14999294, 16938575 32 [14999294], 13 [16938575] Mitelman Database, Reference No. 10554 Edit
1032 14999294_34 53, XY, +X, ?del(1)(q?42), del(3)(q2?5), +4, +6, add(7)(p11.2), +21, +21, +22, +0-3mar acute lymphoblastic leukemia p11.2       14999294 34 Mitelman Database, Reference No. 10554 Edit
1033 MCN_19890002-293 46, XY, inv(7)(p11.2q11.23) mental retardation, broad nasal bridge, anotia/microtia, optic nerve abnormality/a trophy p11.2 q11.23     MCN ID: 19890002-293 www.mcndb.org Edit
1034 MCN_19970075-224 46, XY, t(1;7)(p13.1;p11.2) mental retardation, wasted/very thin build/FTT p11.2       MCN ID: 19970075-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
1035 15198354_9306 46, XX, add(7)(p11.2) [12]/ 46, XX [6] precursor T lymphoblastic lymphoma p11.2     15198354 9306 Mitelman Database, Reference No.10625 Edit
1036 14978788_6 47, XY, t(3;12;14)(q13-21;p11;q13), add(5)(q13), +add(7)(p11.2), r(11), der(21)t(11;21)(q?;p12), der(21)t(6;11)(p11.2;q22)t(11;21)(p12;?) acute myeloid leukemia p11.2       14978788 P6 Mitelman Database, Reference No. 10467 Edit
1037 16317300_1 47, XY, upd(7) mat, +mar [9]. ish mar(7)(p11.2q11.21)(AC023141/ Q9BWX6/ D7S619+, D7Z1+, AC017075+)/ 46, XY, upd(7)mat [16] pre- & post-natal growth retardation, triangular face, relative macrocephaly, mild psychomotor retardation, ear anomalies, squeaky voice - some features of Silver-Russell syndrome p11.2 q11.21 D7S674/ AC023141 D7S2429/ D7S663 16317300   maker 7 - paternal origin Edit
1038 15039973_DD9706831 46, XX, t(7;14)(p11.2;q32.33) reproductive difficulties p11.2       15039973 DD9706831   Edit
1039 12759629_67_2 47, XX, der(3)t(3;7)(q21;p11.2), der(7)t(3;7)del(7)(q32), add(9)(p24), add(15)(p11.2), add(16)(q24), -19, +2mar [3]/47, idem, i(21)(q10) [3] acute megakaryoblastic leukemia - M7 p11.2       12759629 67 Mitelman Database, Reference No. 10985 Edit
1040 12759629_200106_2 46, XY, del(7)(q22q32) [4]/46, XY, r(7)(p11.2q11.2) [1] therapy-related refractory anemia with excess of blasts p11.2 q11.2     12759629 200106 Mitelman Database, Reference No. 10985 Edit
1041 16616116_1 45, XY, dic(7;9)(p11.2;p11) [73%]/ 46, XY [27%] [at diagnosis, bone marrow] B-lineage acute lymphoblastic leukemia - L1 p11.2       16616116 1   Edit
1042 16616116_2 45, XY, dic(7;9)(p11.2;p11) [95%]/ 46, XY [5%] [at diagnosis, bone marrow] B-lineage acute lymphoblastic leukemia - L1 p11.2       16616116 2   Edit
1043 16616116_3 45, XY, dic(7;9)(p11.2;p11) [80%]/ 46, XY [20%] [at diagnosis, bone marrow] B-lineage acute lymphoblastic leukemia - L2 p11.2       16616116 3   Edit
1044 13680362_12 47, XX, +mar [10] de novo/ 46, XX [12] [amniocytes]
7p+; cep 7+ min(7)(:p11.2-> q11.1:) [subcenM-FISH]
phenotypically normal p11.2 q11.2     16434320     Edit
1045 13680362_13 47, XX, +mar [26] de novo/ 46, XX [14] [peripheral blood]
r(7)/ r(7;7) de novo (2 subclones) [cenM-FISH]
7q+; pcp7q+; cep7+r(7)(::p11.1->q11.21::) [15]/ 7q++; pcp7q++; cep7++ r(7;7)(::p11.1-> q11.21::p11.1-> q11.21::) [4]/ 7q++++; pcp7q++++; cep7++++r(7;7;7;7)(::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::p11.1-> q11.21::) [1] (3 subclones) [subcenM-FISH]
aorta insufficiency, aorta root ectasia; atrial septal defect, side ventricles enlarged with plexus cyst, dysacusis on both ears p11.2 q11.21     13680362 case 13   Edit
1046 16825763_1 46, XX, der(1)t(1;11)(q23;q13), t(4;11)(q21;q23), del(6)(q21), idic(7)(p11.2), der(8)t(1;8)(q23;p23) acute lymphoblastic leukemia p11.2   RP11-760D2/ RP11-10F11   16825763 1 idic(7)(p11.2) was originally reported as i(7)(q10); Mitelman Database, Reference No. 11532 Edit
1047 15942938_11 54-55, XY, +X, +4, +6, idic(7)(p11.2), +8, +10, +14, +17, +21, inc [at diagnosis, 3 y.o.]
52-54, XY, +X, +4, +6, idic(7)(p11.2), +10, +14, +17, +1-2mar [at relapse, 7 y.o.]
acute lymphoblastic leukemia p11.2   RP11-760D2/ RP11-10F11   15942938, 16825763 11 [15942938], 2 [16825763] idic(7)(p11.2) was originally reported as i(7)(q10); Mitelman Database, Reference No. 11532 Edit
1048 16825763_3 45, XX, idic(7)(p11.2), der(9;21)(q10;q10), der(19)t(1;19)(q23;p13) acute lymphoblastic leukemia p11.2   RP11-760D2/ RP11-10F11   16825763 3 idic(7)(p11.2) was originally reported as i(7)(q10); Mitelman Database, Reference No. 11532 Edit
1049 16825763_4 47, XY, idic(7)(p11.2), +21c acute lymphoblastic leukemia p11.2   RP11-760D2/ RP11-10F11   16825763 4 idic(7)(p11.2) was originally reported as i(7)(q10); Mitelman Database, Reference No. 11532 Edit
1050 16825763_5 46, XY, idic(7)(p11.2), -13, add(19)(p13) or add(19)(q13), +mar acute myeloid leukemia p11.2   RP11-760D2/ RP11-10F11   16825763 5 idic(7)(p11.2) was originally reported as i(7)(q10); Mitelman Database, Reference No. 11532 Edit
1051 16825763_6 46, XX, t(12;16)(q13;p11)/ 46, idem, idic(7)(p11.2) myxoid liposarcoma p11.2   G248P81983A10/ G248P8793H7   16825763 6 idic(7)(p11.2) was originally reported as i(7)(q10); Mitelman Database, Reference No. 11532 Edit
1052 17551927 46,XX,dup(7)(p11.2p12)mat mild cognitive deficiency, history of spontaneous abortion p11.2 p12     17551927 proband patients mother and son have the same karyotype both with mild cognitive deficiency, GRB10 locus is not duplicated Edit
1053 Unpublished_31380 46,XY,t(4;6)(q35;q27)t(7;9)(p13;p22) developmental delay, facial asymmetry, prominent forehead, hypertelorism with bilat downslanting palp. fissues, bilat. ptosis, bilat. malar flattening, single transverse palmar crease and bilat. 5th digit clinodactyly, right thumb in adducted position, mild pectus carinatum, relative macrocephaly 7p11.2   RP11-678B3/ G249P80040G8   31380   Edit
1054 18049079_B.D. _2 46, XY, upd(7), +r(7)(p11.2q21) pat Russell-Silver syndrome, intrauterine growth retardation, feeding difficulties, retarded bone age, growth retardation, motor development delay, low set ears/ear anomalies, muscular hypoplasia, triangular face, micrognathia, blue sclerae p11.2 q21.12     18049079 B.D. dizygotic twin Edit
1055 18852357_2 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips, micrognathia with pointed chin, low posterior-rotated and overfolded ears p11.2 q11.21 RP5-1091E12 RP11-340I6 18852357     Edit
1056 18704985 dup(7)(p11.2p11.2) [CNV detected by microarray] osteosarcoma p11.2 p11.2     18704985   observed in 16 of 31 patient tumors Edit
1057 Bartley_ACMG2009_1 arr (7p11.2)x3 Potocki-Lupski syndrome, hypospadius, developmental delay p11.2 p11.2       Bartley et al., ACMG2009, Program #239 Edit
1058 19276369 arr 7p11.2(54,600,000-55,300,0 00)x3 oral squamous cell carcinoma p11.2 p11.2 RP11-81B20   19276369   present in 9 of 29 patients (31%) Edit
1059 18941867_2_2 4?,XY.arr −5q22qter, +7p14p21, +7q11.2q22, −7q31qter, +8, +9, +12, −13, −14, −17p adult infratentorial glioma, glioblastoma p11.2 q22     18941867 Case 2   Edit
1060 18852357_1 mos 47,XY,+r(7)(p11.2q11.21)[22]/4 6,XY,upd(7) mat myoclonus-dystonia syndrome, Silver-Russell syndrome, intrauterine growth retardation, growth retardation, premature puberty, dystonia, myoclonus, small triangular-shaped face, prominent forehead, hypertelorism, smallmouth with thin lips,micrognathia with pointed chin, low posterior-rotated andoverfolded ears p11.2 q11.21 RP5-1091E12 RP11-340I6 18852357     Edit
1061 3631140 46, XX, der(11)t(7;11)(p11.1;p15.5) mat craniocerebral asymmetry, carniosynostosis, arhinencephaly, hypertelorism, ventricular septal defect, hypoplastic genitalia, minor limb malformations p11.1       3631140, 2679090, 2692511, 10494083 case 3 [2692511], case 6 [10494083] trisomy of 7p11.1-pter; mother had balanced t(7;11) Edit
1062 6616439_2_1 46/64-79/144/1 47, XY, t(1;8)(q12; q22 or q24), 7q+, i(12p), der(14)t(7;14)(p11.1;q31), dic(15)(q26.2) [partial karyotype] seminoma of testis p11.1       6616439, 4016716, 8330268 case 2 [6616439], case 2 [4016716]   Edit
1063 MCN_19830001-227 46, XY, t(7;17)(p11.1;q21) de novo stillbirth/n eonatal death, Robin sequence p11.1       MCN ID: 19830001-227 www.mcndb.org Edit
1064 11140412_1 46, XX, der(13)t(7;13)(p11.1;p11) mat developmental delay, hypertelorism, flat nasal bridge and schisis, low-set malformed ears, postaxial polydactyly of the left hand, partial syndactyly of III and Iv fingers, abnormal positions of IV and V toes, large perimembraneous VSD, small ASD (type II), hypoplasia of the brain p11.1       11140412 patient 1 trisomy of 7p11.1-pter; mother had balanced t(7;13) Edit
1065 16007665 47, XX, +r. ish r(7)(::p11.1-> q11.21::). ish 7p11.1-q11.1(D7Z11), 7p11.2(bA10F111), 7q11.21(bA3N21) [15]/ r(7;7)(::p11.1-> q11.21::p11.1 -> q11.21::). ish 7p11.1-q11.1(D7Z12), 7p11.2(bA10F112), 7q11.21(bA3N22) [4]/ r(7;7;7;7)(::p11.1-> q11.21::p11.1 -> q11.21::q11.21-> p11.1::q11.21-> p11.1::). ish 7p11.1-q11.1(D7Z14), 7p11.2(bA10F114), 7q11.21(bA3N24) [1]/ 46,XX [10] psychomotor development, congenital heart defect, facial dysmorphism (broad nasal bridge, epicanthal folds, telecanthus, retrognathia, high arched palate, dysplastic ears), long hands, fingers, feet and toes, hypotonia p11.1 q11.21     16007665     Edit
1066 15050871_2 46, X, t(X;7)(p22.2;p11.1). ish(X;7)(wcpX+, wcp7+) three miscarriages p11.1       15050871 G.E. (II;5 in Family 2)   Edit
1067 8616020_43_1 47, XX, +8 [3]/47, idem, der(7)inv(7)(p11q31)del(7)(q31q33) [2]/ 43, X, -X, -6, -7, -19, +mar [3]/ 46, XX [2] myelodysplastic syndrome, acute myeloblastic leukemia - M2 p11 q31     8616020 43 Mitelman Database, Reference No. 6510 Edit
1068 9266948_13 44, XY, t(1;3)(q21;q22), t(7;17)(p11;p11), del(8)(q22), -20, -21 splenic marginal zone B-cell lymphoma p11       9266948, 10329610, 11830479, 11146574 13 [9266948, 11146574], S74 [10329610], 74 [11830479] Mitelman Database, Reference No. 9166 Edit
1069 6832784 46, XX, t(7p7p;7q7q) history of miscarriages: three successive pregnancies ended by first-trimester spontaneous abortions p11 q11     6832784     Edit
1070 699358_mother 46, XX, t(7;14)(p11;p11) pat phenotypically normal; had two children with the same translocation, and history of a spontaneous abortion p11       699358 mother   Edit
1071 699358_proband 46, XY, der(14)t(7;14)(p11;p11) mat dolicocephaly, wide fontanelle, hypertelorism, antimongoloid slanting of the palpebral fissures, congenital dislocation of the shoulders and hips, possible cardiac defect, mental retardation p11       699358, 7083611, 2679090, 2692511, 2363431, 10494083 proband [699358], case 2 [2692511], case 4 [10494083] trisomy of 7p11-pter Edit
1072 2080099 46, XX, der(14)t(7;14)(p11;p11) pat dolicocephaly, hypertelorism, craniopalaoskisis, dysmorphic hands, hypoplasia of the labia majora, aplasia of the labia minora, prominent clitoris p11       2080099, 10494083 case 3 [10494083] trisomy 7p11-pter; father and grandfather had balanced t(7;14) Edit
1073 7500652_858 45, X?, dic(7;15)(p11;p11) [13]/45, idem, del(17) [6] refractory anemia p11       7500652 858 Mitelman Database, Reference No. 6281 Edit
1074 11146574_25 46, XY, t(5;7)(p15;p11) [8]/ 46, XY [12] splenic marginal zone B-cell lymphoma p11       11146574 25 Mitelman Database, Reference No. 9166 Edit
1075 1868912_M36_2 45, XY, del(5)(q13q31), -7, ?t(7;20)(p11;q13), t(22;?)(p11;?) [4]/ 45, idem, del(3)(p22), del(6)(q23) [2]/ 45, idem, del(4)(q25), -12, +r [2]/ 46, XY [6] testicular cancer p11       1868912 M36   Edit
1076 11417483_28 43, XX, der(3)t(3:8)(q21;?), -5, t(7;16)(p11;q11), der(12)t(12;17)(p12;q24), -15, -17, der(20)t(20;?), +mar [14]/45, XX, t(5;11)(q14q33;q24), t(7;16)(p11;q11), der(12)t(12;17)(p12;17)(p12;q24), -15, -17, +mar [16] myelodysplastic syndrome p11       11417483 28   Edit
1077 1591707_2 46, XY, t(1;7)(p11;p11), inc refractory anemia with excess of blasts in transformation p11       1591707 2 Mitelman Database, Reference No. 4327 Edit
1078 2306683_1 46, XY, +der(1)t(1;7)(p11;p11), -7, del(20)(q11q13) myelodysplastic syndrome p11       2306683, 1591707 1   Edit
1079 2306683_2 46, XY, +der(1)t(1;7)(p11;p11), -7 myelodysplastic syndrome p11       2306683, 1591707 2 Mitelman Database, Reference No. 3320 Edit
1080 2306683_3 43, XY, +der(1)t(1;7)(p11;p11), del(5)(q13q33), -7, dic(12;14)(p13;p11), -17, -18, add(18)(p11)/ 43, idem, -3, +r myelodysplastic syndrome p11       2306683, 1591707 3 Mitelman Database, Reference No. 3320 Edit
1081 2306683_4 46, XX,, +der(1)t(1;7), -7/ 47, XX, +der(1)t(1;7), +21 [later date] myelodysplastic syndrome p11       2306683, 1591707 4   Edit
1082 2306683_5 47, XY, +der(1)t(1;7)-7, +13 [=8]/ 46, XY, +der(1)t(1;7), -7, +13, 17p+, -21 [=8] myelodysplastic syndrome p11       2306683, 1591707 5   Edit
1083 2306683_6_1 46, XX, +der(1)t(1;7), t(3;3)(q21;q26), -7/ 45, XX, t(1;7;8)(p31.2;q36;p21), t(3;3), -7 [later date] myelodysplastic syndrome p11       2306683, 1591707 6   Edit
1084 7913578 46, XX, t(7;7)(7p7p;7q7q) short stature, growth retardation, slightly triangular-shaped face, hight arched and narrow palate, prominent occiput, slight limb asymmetry, small pituitary gland p11 q11     7913578, 11483637 proband isodisomy for paternal 7p and maternal 7q ; mother was a carier of inv(16)(p12.2q22) Edit
1085 NIGMS_GM10177 46, X, t(X;7)(q28;p11) phenotype not given p11       GM10177 fetal skin fibrablast, finite (primary) cell line from CCR: NIGMS Human Genetic Cell Repository Edit
1086 11066076_5_2 47, XY, t(7;12)(q36;p13), +der(19) [3 mo]
49, XY, ins(7)(p11;p15q34?), +8, +19, +22 [12 mo, relapse]
acute myeloblastic leukemia - M0 p11       11066076, 12939747 5 [11066076], 3 [12939747] Mitelman Database, Reference No. 8756 Edit
1087 8618441_16_1 43, X, dic(?Y;16)(q11;q13), -5, der(7)inv(7)(p11q22)del(7)(q22q32), -12, der(15)t(15;17?)(p11;q21), add(19)(p13), -20, +mar myelodysplastic syndrome - refactory anemia with excess of blasts p11 q22     8618441 16 Mitelman Database, Reference No. 6617 Edit
1088 8956866_21 48, XX, r(7)(?p11q36), +12, del(14)(q22q32), +18 [18]/ 46, XX [2] mantle cell lymphoma p11 q36     8956866 21 Mitelman Database, Reference No. 6667 Edit
1089 2378982_5 45, XY, der(7)t(7;9)(p11;q11)t(9;22)(q34;q11), -9, der(22)t(9;22) acute lymphoblastic leukemia - L2 p11       2378982, 1995090 5 [2378982], 1 [1995090] Mitelman Database, Reference No. 3580 Edit
1090 12203776_33 46, XY, t(9;22)(q34;q11) [2]/ 46, idem, dic(7;17)(p11;p12) [2]/ 46, idem, der(13)t(2;13)(?;q2?) [9]/ 50, idem, +13, +der(22)t(9;22), +2mar [2] chronic myeloid leukemia, blast crisis p11       12203776 33 Mitelman Database, Reference No. 9703 Edit
1091 7378317_1 47, XY, +der(1)t(1;7)(p1?;p11), -7, +21 polycythema vera, myelofibrosis, myeloid metaplasia p11       7378317, 6744224, 4052982, 3060251, 1591707 1 [7378317], 16 [3060251], 9 [6744224] Mitelman Database, Reference No. 413 Edit
1092 7378317_2 46, XX, +der(1)t(1;7)(p1?;p11), -7 polycythemia, myleofibrosis, myeloid metaplasia p11       7378317, 6744224, 4052982, 3060251, 1591707 2 [7378317], 17 [3060251], 10 [6744224] Mitelman Database, Reference No. 413 Edit
1093 7378317_3 46, XY, +der(1)t(1;7)(p1?;p11), -7, add(17)(p?) ideopathic myelofibrosis p11       7378317, 6744224, 4052982, 3060251, 1591707 3 [7378317], 18 [3060251], 11 [6744224], Mitelman Database, Reference No. 413 Edit
1094 3495006_4 47, XX, +der(1)t(1;7)(p11;p11), ins(21;5)(q22;q31.3q33.1), -7, +8 [73%]/ 46, XX, [27%] acute myelomonocytic leukemia p11       3495006, 1591707 4   Edit
1095 7470622_19_1 45, XX, -7/ 48, idem, +t(1;7)(p11;p11), +11, +13 multiple myeloma, secondary acute myloproliferative syndrome p11       7470622, 4052982, 6744224, 3060251, 1591707 19 [7470622, 4052982, 3060251], 12 [6744224] Mitelman Database, Reference No. 661 Edit
1096 4052982_1 46, XX, +der(1)t(1;7)(p11;p11), -7/ 46, XX lymphosarcoma -> acute myeloblastic leukemia - M1 p11       4052982, 3060251, 1591707 1 Mitelman Database, Reference No. 1490 Edit
1097 4052982_2 47, XX, +der(1)t(1;7)(p11;p11), -7, +8/ 46, XX multiple myeloma -> dyshematopoiesis p11       4052982, 3060251, 1591707 2 Mitelman Database, Reference No. 1490 Edit
1098 4052982_3 46, XY, +der(1)t(1;7)(p11;p11), -7 refractory anemia p11       4052982, 3060251, 1591707 3 Mitelman Database, Reference No. 1490 Edit
1099 4052982_4 46, XY, +der(1)t(1;7)(p11;p11), -7/ 46, XY refractory anemia p11       4052982, 3060251, 1591707 4 Mitelman Database, Reference No. 1490 Edit
1100 4052982_5 46, XY, +der(1)t(1;7)(p11;p11), -7/ 46, XY refractory anemia p11       4052982, 3060251, 1591707 5 Mitelman Database, Reference No. 1490 Edit
1101 4052982_6 48, XY, +Y, +der(1)t(1;7)(p11;p11), -7, +8/ 46, XY pancytopenia -> acute myeloblastic leukemia - M1 p11       4052982, 3060251, 1591707 6 Mitelman Database, Reference No. 1490 Edit
1102 4052982_7 46, XY, +der(1)t(1;7)(p11;p11), -7/47, XXY, idem/ 46, XY pancytopenia -> myelodysplastic syndrome p11       4052982, 3060251, 1591707 7 Mitelman Database, Reference No. 1490 Edit
1103 6744224_1 46, XX, +der(1)t(1;7)(p11;p11), -7/ 47, idem, +8/ 46, XX mesothelial cyst -> dyshematopoiesis -> acute myelomonocytic leukemia - M4 p11       6744224, 4052982, 3060251, 1591707 1 [6744224], 8 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1104 6744224_2 46, XX, +der(1)t(1;7)(p11;p11), -7/ 46, XX ovarian carcinoma -> myelodysplastic syndrome p11       6744224, 4052982, 3060251, 1591707 2 [6744224], 9 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1105 6744224_3 46, XY, +der(1)t(1;7)(p11;p11), -7 myelodysplastic syndrome p11       6744224, 4052982, 3060251, 1591707 3 [6744224], 10 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1106 6744224_4 46, XY, +der(1)t(1;7)(p11;p11), -7/ 46, XY polycythemia vera -> myelofibrosis with myeloid metaplasia p11       6744224, 4052982, 3060251, 1591707 4 [6744224], 11 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1107 6744224_5 46, XY, -7, +t(1;7)(p11;p11)/ 47, idem, +21 skin tumor -> refractory anemia with excess of blasts -> acute myelomonocytic leukemia - M4 p11       6744224, 4052982, 3060251, 1591707 5 [6744224], 12 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1108 6744224_6 47, XY, +der(1)t(1;7)(p11;p11), -7, +8 Hodgkin's disease -> acute myelomonocytic leukemia - M4 p11       6744224, 4052982, 3060251, 1591707 6 [6744224], 13 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1109 6744224_7 46, XY, +der(1)t(1;7)(p11;p11), -7/ 46, XY leukopenia -> myelodysplastic syndrome p11       6744224, 4052982, 3060251, 1591707 7 [6744224], 14 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1110 6744224_8 46, XY, +der(1)t(1;7)(p11;p11), -7/ 92, idemx2/ 184, idemx4/ 46, XY typhoid fever, refractory anemia with excess of blasts -> acute myeloblastic leukemia - M0 p11       6744224, 4052982, 3060251, 1591707 8 [6744224], 15 [4052982, 3060251] Mitelman Database, Reference No. 1073 Edit
1111 4052979_1 47, XX, +der(1)t(1;7)(p11;p11), -7, +8, inv(9)c refractory anemia with excess of blasts p11       4052979, 3060251, 1591707 1 [4052979], 26 [3060251] Mitelman Database, Reference No. 1491 Edit
1112 4052979_2 47, XY, +9/ 47,idem, +der(1)t(1;7)(p11;p11),- 7 idiopathic myelofibrosis with myeloid metaplasia p11       4052979, 1591707 2 [4052979] Mitelman Database, Reference No. 1491 Edit
1113 3060251_1 47, XY, +der(1)t(1;7)(p11;p11), -7, +8 refractory anemia p11       3060251, 1591707 46 (MD, case 1) [3060251] Mitelman Database, Reference No. 2712 Edit
1114 4052980_1 46, XY, +der(1)t(1;7)(p11;p11), -7/ 47, idem, +8/ 48, idem, +8, del(9)(q21q31) acute myeloid leukemia p11       4052980, 3060251, 1591707 1 [4052980], 27 [3060251] Mitelman Database, Reference No. 1480 Edit
1115 4052980_2 46, XY, +t(1;7)(p11;p11), -7/ 47, idem, +8 myelodysplastic syndrome p11       4052980, 3060251, 1591707 2 [4052980], 28 [3060251] Mitelman Database, Reference No. 1480 Edit
1116 3466683 46, XY, +der(1)t(1;7)(p11;p11), -7 chronic myelomonocytic leukemia p11       3466683, 3060251, 1591707 33 [3060251] Mitelman Database, Reference No. 1758 Edit
1117 3706288_1 46, XX, +der(1)t(1;7)(p11;p11), -7 [3]/ 47, XX, +9 [1]/ 47, XX, +t(1;7)(p11;p11), -7, +9, [1]/ 46, XX [15] polycythemia vera p11       3706288, 3060251 1 [3706288], 34 [3060251] Mitelman Database, Reference No.1637 Edit
1118 3706288_2 47, XX, +der(1)t(1;7)(p11;p11) [20] chronic myeloproliferative disorder p11       3706288, 3060251 2 [3706288], 35 [3060251] Mitelman Database, Reference No.1637 Edit
1119 3706288_3 46, XX, +der(1)t(1;7)(p11;p11), -7 [25] chronic myeloproliferative disorder p11       3706288, 3060251, 1591707 3 [3706288], 36 [3060251] Mitelman Database, Reference No.1637 Edit
1120 3706288_4 47, XY, +der(1)t(1;7)(p11;p11), -7, +8 [11]/ 46, XY [7] refractory anemia p11       3706288, 3060251, 1591707 4 [3706288], 37 [3060251] Mitelman Database, Reference No.1637 Edit
1121 3706288_5 46, XY, +der(1)t(1;7)(p11;p11), -7 [1] chronic myeloproliferative disorder p11       3706288, 3060251, 1591707 5 [3706288], 38 [3060251] Mitelman Database, Reference No.1637 Edit
1122 3706288_6 46, XY, +der(1)t(1;7)(p11;p11), -7 [5]/ 47, XY, -7, +9, +der(1)t(1;7)(p11;p11) [1]/ 46, XY [15] myeloproliferative disorder p11       3706288, 3060251, 1591707 6 [3706288], 39 [3060251] Mitelman Database, Reference No.1637 Edit
1123 3706288_7 46, XY, +der(1)t(1;7)(p11;p11), -7 [3]/ 47, XY, +8 [6]/ 47, XY, +9 [2]/ 46, XY [8] refractory anemia with ringed sideroblasts p11       3706288, 3060251, 1591707 7 [3706288], 40 [3060251] Mitelman Database, Reference No.1637 Edit
1124 3706288_8 47, XX, +der(1)t(1;7)(p11;p11), -7, +21 [30] refractory anemia with excess of blasts p11       3706288, 3060251, 1591707 8 [3706288], 41 [3060251] Mitelman Database, Reference No.1637 Edit
1125 3706288_9 46, XY, +der(1)t(1;7)(p11;p11), -7 [11] refractory anemia with excess of blasts in transformation p11       3706288, 3060251, 1591707 9 [3706288], 42 [3060251] Mitelman Database, Reference No.1637 Edit
1126 3706288_10 47, XX, +der(1)t(1;7)(p11;p11), -7, +8 [9]/ 46, XX [12] acute myelomonocytic leukemia - M4 p11       3706288, 3060251, 1591707 10 [3706288], 43 [3060251] Mitelman Database, Reference No.1637 Edit
1127 3706288_11 46, XY, +der(1)t(1;7)(p11;p11), -7 [5]/ 46, XY [27] multiple myeloma p11       3706288, 3060251, 1591707 11 [3706288], 44 [3060251] Mitelman Database, Reference No.1637 Edit
1128 3706288_12 46, XX, +der(1)t(1;7)(p11;p11), -7 [11]/ 46, XX [22] multiple myeloma p11       3706288, 3060251, 1591707 12 [3706288], 45 [3060251] Mitelman Database, Reference No.1637 Edit
1129 2713814_JHS 47, XY, +der(1)t(1;7)(p11;p11), -7, +8 acute myeloblastic leukemia - M2 p11       2713814, 1591707 JHS [2713814] Mitelman Database, Reference No. 2847 Edit
1130 2713814_MB 46, XX, +der(1)t(1;7)(p11;p11), -7 refractory anemia with excess of blasts p11       2713814, 1591707 MB [2713814] Mitelman Database, Reference No. 2847 Edit
1131 2713814_JD 46, XY, +der(1)t(1;7)(p11;p11), -7 acute myelomonocytic leukemia - M4 p11       2713814, 1591707 JD [2713814] Mitelman Database, Reference No. 2847 Edit
1132 2713814_LH 46, XY, -7, +der(1)t(1;7)(p11;p11) [1]/ 45, idem, -5, del(14)(q32.1) [1]/ 46, XY [44] myelodysplastic syndrome p11       2713814, 1591707 LH [2713814] Mitelman Database, Reference No. 2847 Edit
1133 3422049_1 46, XY, -7, +der(1)t(1;7)(p11;p11) myelodysplastic syndrome p11       3422049 patient 1   Edit
1134 3422049_3 46, -7, +t(1;7)(p11;p11) myelodysplastic syndrome p11       3422049 patient 3   Edit
1135 3422049_4 46, -7, +t(1;7)(p11;p11) myelodysplastic syndrome p11       3422049 patient 4   Edit
1136 2036643_2 46, XX, -7, +der(1)t(1;7)(p11;p11) [7]/ 46, XX [18] myelofibrosis p11       2036643 case 2 Mitelman Database, Reference No. 3800 Edit
1137 2036643_3 46, XX, -7, +der(1)t(1;7)(p11;p11) [6]/ 46, XX [15] multiple myeloma p11       2036643 case 3 Mitelman Database, Reference No. 3800 Edit
1138 2357695_23 45, XX, t(7;17)(p11;q11), t(9;22)(q34;q11), -17/ 48, XX, +8, t(9;22), i(17)(q10), +19 [bone marrow, peripheral blood] chronic myeloid leukemia p11       2357695, 8683992 23 [2357695], 15 [8683992] Mitelman Database, Reference No. 3460 Edit
1139 6962308_94 46, XX, der(7)t(1;7)(q24;p11), t(9;22)(q34;q11) chronic myeloid leukemia, blastic phase p11       6962308 94 Mitelman Database, Reference No. 809 Edit
1140 3950675_2039 46, XY, +der(1)t(1;7)(p11;p11), -7/ 46, XY malignant lymphoma --> therapy-related myelodysplastic syndrome p11       3950675, 1591707 2039 [3950675], 66/M [1591707] Mitelman Database, Reference No. 1826 Edit
1141 ECACC_95101919 46, XY, t(7;15)(p11;p11) cerebral palsy, IQ of 30, severe atypically hypotonia p11       95101919 (cell line: GK0001) brother of ECACC_95101920, son of ECACC_95101921; www.ecacc.or.uk; data unpublished Edit
1142 11907622_t(7;8) 46, XY, t(7;8)(p11;q21) testicular dysgenesis p11       11907622 MCN ID: 20020031-999 first reported in Wang et al., 1997, Chin J Birth Health Hered 5: 96-9; www.mcndb.org Edit
1143 6425197_45 47, XX, t(7;9)(p11;q33) de novo, +mar mat phenotype not given p11       6425197 case 45 mother carried 47, XX, +nar Edit
1144 ECACC_95101920 46, XY, t(7;15)(p11;p11) cerebral palsy, IQ of 45, moderate atypical hypotonia p11       95101920 (cell line: GK0002 ) brother of ECACC_95101919, son of ECACC_95101921; www.ecacc.or.uk Edit
1145 ECACC_95101921 46, XY, t(7;15)(p11;p11) phenotypically normal p11       95101921 (cell line: GK0003) father of ECACC_95101919 and ECACC_95101920; www.ecacc.or.uk Edit
1146 10234510_t(7;14)(p11;q11) 46, X?, t(7;14)(p11;q11) psoriasis p11       10234510 t(7;14)(p11;q11) [Table 2], 2 cases   Edit
1147 738728_10362 46, XX, t(5;7)(p15.3;p11) malformed ear p11       738728 10362   Edit
1148 NIGMS_GM13732 46, XY, t(7;15)(p11;p11). ish t(7;15)(D7Z1+, D15Z-; D15Z+, D7Z1-) atypical hypotonia cerebral palsy; mental retardation; delayed gross motor skills; loss of language skills at about 1 year of age; IQ is 30; exhibits some signs of autism p11       GM13732 (family 1634, proband) lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
1149 NIGMS_GM13733 46, XY, t(7;15)(p11;p11). ish t(7;15)(D7Z1+, D15Z-; D15Z+, D7Z1-) mild cerebral palsy; moderate mental retardation; delayed gross motor skills; loss of language skills at about 1 year of age; IQ is 45 p11       GM13733 (family 1634, affected brother) lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
1150 NIGMS_GM13734 46, XY, t(7;15)(p11;p11). ish t(7;15)(D7Z1+, D15Z-; D15Z+, D7Z1-) phenotypically normal p11       GM13734 (family 1634, father) 2 sons (NIGMS_GM13732, NIGMS_GM13733) have same balanced translocation; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
1151 14999294_29 59, XY, +X, +4, +5, +6, der(7)t(1;7)(q11;p11), +10, +11, +11, +14, +15, +18, +21, +21, +mar acute lymphoblastic leukemia p11       14999294 29 Mitelman Database, Reference No. 10554 Edit
1152 14999294_33 45, XY, dic(7;9)(p11;p11) acute lymphoblastic leukemia p11       14999294, 16938575 33 [14999294], 14 [16938575] Mitelman Database, Reference No. 10554 Edit
1153 9806664_2 45, XY, dic(7;9)(p11;p11), t(9;22)(q34;q11) acute lymphoblastic leukemia p11       9806664, 14999294, 16938575 2 [9806664], 31 [14999294], 12 [16938575] Mitelman Database, Reference No. 7741 Edit
1154 1630020 46, XY, -7, +der(1)t(1;7)(p11;p11) chronic myelomonocytic leukemia p11       1630020 64-year-old male monosomy of 7p11-qter Edit
1155 3419390_2559 45, XX, -7, +t(7;12)(p11;q11), -12/ 46, XX acute myelomonocytic leukemia - M4 p11       3419390, 8527385 2559 [3419390], 8 [8527385] Mitelman Database, Reference No. 2657 Edit
1156 9669835_11_1 47, XY, der(2)t(2;7)(p24;?), der(3)t(3;7)(p11;p11), dic(5;7)(q10;p10), del(6)(q12), -7, ?der(12), -13, +2mar refractory anemia with excess of blasts in transformation p11 p10     9669835 11 Mitelman Database, Reference No. 7769 Edit
1157 7723397_3 46, XY, t(9;22)(q34;q11) [2]/ 45, XX, der(1)t(1;7)(q42;p11), -7, t(9;22)(q34;q11) [16]/ 45, XX, -7, t(9;22)(q34;q11), der(22)t(7;22)(p11;11) [8] [01/31/94]
45, XX, der(1)t(1;7)(q42;p11), -7, t(9;22)(q34;q11) [3]/ 45, XX -7, t(9;22)(q34;q11), der(22)t(7;22)(p11;p11) [1] [02/28/94]
chronic myeloid leukemia p11       7723397, 8683992 patient 3 (C.P.) [7723397], case 32 [8683992] monosomy of 7p11-qter Edit
1158 MCN_19960001-023 46, XX, inv(7)(p11q12) precocious puberty, generalised obesity p11 q12     MCN ID: 19960001-023 www.mcndb.org Edit
1159 MCN_19910001-293 46, XY, ins(7;14)(p11;q11.2q13.2) de novo mental retardation, anteverted nostrils, terminal hypoplasia of toes, deeply grooved philtrum, macroglossia, anteverted/prominent/b at ears, hypoplastic/s mall nostrils, round face, abnormal plantar creases, high vaulted and narrow palate, other dental abnormality, hypotonia, dysphagia/feeding difficulty p11       MCN ID: 19910001-293 www.mcndb.org Edit
1160 MCN_19920001-092 46, XY, t(5;7;8)(q11;p11;p11) de novo spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, short neck, broad nasal bridge, hearing abnormal congenital/a cquired, visual loss - severe, abnormal vision, mouth held open p11       MCN ID: 19920001-092 www.mcndb.org Edit
1161 MCN_19760001-001 46, XY, t(1;7)(p31;p11) deep set eyes, mental retardation, short palpebral fissures/blepharophimosis p11       MCN ID: 19760001-001 www.mcndb.org Edit
1162 MCN_19880001-047 46, XY, t(5;7)(q11;p11) de novo mental retardation, cerebral cortex atrophy, seizures p11       MCN ID:19880001-047 www.mcndb.org Edit
1163 MCN_19800001-004 46, XY, t(5;7)(p15.3;p11) anteverted nostrils, abnormal epiglottis, hypertelorism, microcephaly, any vertebral defect, preauricular tags/ear pits/sinuses, seizures p11       MCN ID:19800001-004 www.mcndb.org Edit
1164 MCN_19830001-286 46, XX, t(7;19)(p11;q12) syndactyly of fingers p11       MCN ID: 19830001-286 www.mcndb.org Edit
1165 2036643_1 46, XY [17]/ 46, XY, -7, +der(1)t(1;7)(p11;p11) [4]/ 46, XY, -7, -9, -16, -16, +der(1)t(1;7), +mar [3]/ 44, XY, -7, -9, -16, -16, +der(1)t(1;7), +mar [1]/ 44, X, -Y, -5, +8, -18 [1] myelodysplastic syndrome p11       2036643 case 1 Mitelman Database, Reference No. 3800 Edit
1166 10335941_2_1 53-55, X, -X, del(1)(p32), +del(1)(p21), +der(1)t(1;3)(p32;p21), del(3)(p21), +der(3;15)(q10;q10), -5, +6, +der(6)add(6)(p11)add(6)(q27), add(7)(p11), +add(7)(p21), +8, +8, -11, -13, der(13;21)(q10;q10), add(14)(p11), der(15)t(6;15)(p21;p12), der(17)t(3;17)(p21;p13)x2, +18, +18, add(19)(q13), -20, der(21;21)(q10;q10), +2mar, dmin endometrial stromal sarcoma p11       10335941, 12850374 2 [10335941], 17 [12850374] Mitelman Database, Reference No. 8154 Edit
1167 12810258_4886 45, XX, dic(7;22)(p11;q11)/ 46, idem, +mar meningioma, grade I p11       12810258 T4886 Mitelman Database, Reference No. 10151 Edit
1168 12810258_5044 43, XX, -1, der(7)t(1;7)(q11;p11), der(4), der(6), -13, -14, -15, der(18), +20, +20, -22 meningioma, grade I p11       12810258 T5044 Mitelman Database, Reference No. 10151 Edit
1169 12810258_5071 41, XX, -1, der(7)t(1;7)(q11;p11), -10, der(11), -14, -19, -22 meningioma, grade II p11       12810258 T5071 Mitelman Database, Reference No. 10151 Edit
1170 12810258_5170 45, XX, -1, der(7)t(1;7)(q11;p11), -2, +mar meningioma, grade II p11       12810258 T5170 Mitelman Database, Reference No. 10151 Edit
1171 12810258_5416_2 45, XX, -1, del(7)(q11), +der(7)t(1;7)(q11;p11), -22 meningioma, grade II p11       12810258 T5416 Mitelman Database, Reference No. 10151 Edit
1172 12810258_5642 43, XY, -1, der(7)t(1;7)(q11;p11), der(11)t(11;21)(p11;q11), del(18)(q21), -21, -22 meningioma, grade II p11       12810258 T5642 Mitelman Database, Reference No. 10151 Edit
1173 12810258_4926 40, XY, -1, +del(1)(p13)x2, -6, -7, +t(7;?8)(p11;?q11), -10, -13, -14, +add(15p), -18, -21, -22 [1]/ 46, XY [6] meningioma, grade II p11       12810258 T4926   Edit
1174 1625498_2 46, XY [1]/ 45, XY, -7 [12]/ 47, XY, +8, -7, +der(1)t(1;7)(p11;p11)[2] refractory anemia p11       1625498     Edit
1175 9797774_4_1 45, XX, del(5)(q13q33), -7, der(8)ins(8;7)(p11;?p11) refractory anemia with excess of blasts in transformation p11 ?     9797774 4 Mitelman Database, Reference No. 7722 Edit
1176 11140412_2 46, XX, der(13)t(7;13)(p11;p11) de novo hypertelorism short upturned nose and flat nasal bridge, dolichocephaly, hypoplastic nipples, hypoplastic scrotum and short penis, dislocated hips, clinodactyly of II-V fingers, large VSD, ASD (type II), valvular pulmonary stenosis, general hypotonia, developmental delay p11       11140412 patient 2 trisomy of 7p11-pter Edit
1177 2253183_22 46, XX, +der(7)t(7;14)(p11;q11), -14 [1]/ 46, XX [2] [lymph node] angioimmunoblastic lymphadenopathy p11       12682631 22   Edit
1178 2253183_24 50, XY, +2, del(7?)(q11?), +18, +21, +22 [1]/ 46, XY [1] angioimmunoblastic lymphadenopathy p11 qter     12682631 24   Edit
1179 6627222_150 46, XX, add(7)(p11) acute myelomonocytic leukemia - M4 p11       6627222 150 Mitelman Database, Reference No. 1007 Edit
1180 3060251_2 46, XX, +der(1)t(1;7)(p11;p11), -7 idiopathic thrombocythemia --> myelofibrosis p11       3060251, 1591707, 16164981 47 (JF, case 2) [3060251], 1 [16164981] Mitelman Database, Reference No. 2712 Edit
1181 3060251_3 47, XY, +del(1)(p11)/ 47, XY, +der(1)t(1;7)(p11;p11)/ 48, idem, +Y/ 49, idem, +Y, +21/ 46, XY normochromic normocytic anemia, thrombocytopenia, acute myeloblastic leukemia p11       3060251, 1591707 48 (MM, case 3) [3060251] Mitelman Database, Reference No. 2712 Edit
1182 1591707_1 46, XX, t(1;7)(p11;p11), inc acute myelomonocytic leukemia - M4 p11       1591707 1 Mitelman Database, Reference No. 4327 Edit
1183 9552025_23 46, XY, inv(7)(p11q32), t(11;14)(p13;q11) acute lymphoblastic leukemia p11 q32     9552025 23 Mitelman Database, Reference No. 7566 Edit
1184 1954385_9 47, XY, +der(1)t(1;7)(p11;p11), -7, +8 [90%]/ 46, XY [10%] acute lymphoblastic leukemia --> therapy-related refractory anemia p11       1954385 9 Mitelman Database, Reference No. 4077 Edit
1185 1954385_12 49, XY, +der(1)t(1;7)(p11;p11), -7, +8, +15, +21 [75%]/ 46, XY, +der(1), -18 [10%]/ 46, XY [15%] Hodgkin's disease --> therapy-related refractory anemia p11       1954385 12 Mitelman Database, Reference No. 4077 Edit
1186 8464228_15 46, Y, t(X;7)(q26;p11), t(6;12)(q24;q23), +del(16)/ 46, XY, t(10;11)(q25;q12), del(17)(q21)/ 46, XY, t(4;5)(q1?3;p14), -19, +mar acute lymphoblastic leukemia - L1 p11       8464228 15 Mitelman Database, Reference No. 4857 Edit
1187 2889676_4 46, XX, der(7)t(7;14)(p11;q11), add(14)(q32), +20, -22/ 46, XX, der(14)t(1;14)(q12;q32) adult T-cell lymphoma/leukemia (HTLV-1+) p11       2889676 4 Mitelman Database, Reference No. 2332 Edit
1188 3478133_1965_1 47, XX, +add(7)(p?), t(7;8)(p11;q11), i(8)(q10), del(11)(q24) acute monoblastic leukemia - M5a p11       3478133 1965 Mitelman Database, Reference No. 2099 Edit
1189 8241509_3 46, XY, +der(1)t(1;7)(p11;p11), -7, del(20)(q11q13) [21]/ 46, XY [3] Hodgikin's disease --> therapy-related acute myeloid leukemia p11       8241509 3 Mitelman Database, Reference No. 5179 Edit
1190 1868912_M20 47, XX, del(3)(q21q25), +8 [21]/ 47, idem, der(7)t(1;7)(p11;p11) [4] small cell lung cancer p11       1868912 M20   Edit
1191 1328583_1 46, XY, der(7)t(3;7)(p11;p11) [30] Wilms tumor p11       1328583 1 Mitelman Database, Reference No. 4648 Edit
1192 11835232_101 45, XX, i(1)(q10), dic(7;16)(p1?1;q1?2) [9] Wilms tumor p11       11835232 101 Mitelman Database, Reference No. 9439 Edit
1193 11835232_177 45, XX, add(7)(p11), -22/ 49, idem, +5, +6, +add(7), +9 [cp6] Wilms tumor p11       11835232 177 Mitelman Database, Reference No. 9439 Edit
1194 12550766_80 47, XY, der(1)t(1;1)(p36;q11), der(7)t(3;7)(q12;p11), +12 [6]/ 46, XY [2] Wilms tumor p11       12550766 80 Mitelman Database, Reference No. 9917 Edit
1195 2207332_23 45, XY, del(6)(q14q23), dic(7;12)(p11;p12)/ 46, idem, +mar early pre-B-cell acute lymphoblastic leukemia p11       2207332, 2018838, 9373267 23 [2207332], 9 [2018838], 78 [9373267] Mitelman Database, Reference No. 3848 Edit
1196 2018838_10 46, XY, del(1)(q32), dic(7;12)(p11;p12), +21 early pre-B acute lymphoblastic leukemia - L1 p11       2018838, 9373267 10 [2018838], 79 [9373267] Mitelman Database, Reference No. 3848 Edit
1197 2018838_11 45, XY, dic(7;12)(p11;p12)/ 46, idem, +?18/ 90, idemx2 T cell acute lymphoblastic leukemia - L2 p11       2018838, 9373267 11 [2018838], 80 [9373267] Mitelman Database, Reference No. 3848 Edit
1198 2018838_12 47, XX, dic(7;12)(p11;p12)x2, t(11;15)(q23;q15-21), +20 [14] pre-B-cell acute lymphoblastic leukemia - L2 p11       2018838, 1596566, 9373267 12 [2018838], 41 [1596566], 81 [9373267] Mitelman Database, Reference No. 3848 Edit
1199 2018838_13 45, XX, dic(7;12)(p11;p12), del(9)(p21) acute lymphoblastic leukemia - L1 p11       2018838 13 Mitelman Database, Reference No. 3848 Edit
1200 15325092_13 45, XX, -2, +der(5)t(5;6)(q13;?), der(6)t(2;6)(?;p25), +8, der(11)t(11;16)(q21;?), +der(11)t(11;15)(q13;q15), -13, der(13)t(13;13)(q34;q12), -15, -16, der(17)t(2;17)(?;p11), der(22)t(16;22)(?;p12) [4]/46, idem, +19 [5]/44, idem, der(3)t(3;5)(p25;?), -5 [4]/ 43, idem, der(7)t(7;17)(p11;q11), -8, del(17)(q12), -18 [2]/ 46, XX [5] [karyotyped by SKY]
rev ish enh(6p21.1p21.3, 11q23, 13q32qter, 19q13.2), dim(2p14.2q24, 7p11pter, 8p23, 9p21p22, 11p15, 11q22, 18q11qter, Xq21, Xq27qter) [detected by CGH]
refractory anemia with excess of blasts in transformation p11       15325092, 15611930 13 monosomy of 7p11-pter; Mitelman Database, Reference No.10754 Edit
1201 11979548_10_1 44, XY, der(3)t(3;21)(p13;q22), del(5)(q22q3?3), -6, der(7)t(6;7)(p11;p11)t(6;7)(p21;p21), der(7)t(7;17)(q21;q24), der(9)t(?6;9)(?;q22), -17, der(21)t(3;21)(p?25;q22), der(22)t(3;22)(?;q13) acute myeloblastic leukemia - M2 p11 p21     11979548 10 Mitelman Database, Reference No. 9492 Edit
1202 11979548_13_1 38-41, X, -X, der(1)t(1;12)(q21-23;q13), del(3)(p1?3), der(5;17)(p10;q10), der(?6)t(1;6;3;6)(q2?3;?;?;?), -7, +11, der(11)t(11;18)(p11;q11)t(6;18)(q21;q21)x2, -12, der(?16)t(16;21)(p11;q?)t(X;21)(p11;q?), -18, -21, +der(?)t(?;16)(?;?p11)t(7;16)(p1?1;?p13)/ 33-45, XX, der(2)t(2;7)(p21;q22), der(5;17), der(6)t(6;13)(q2?3;q?), der(?7;13)t(?7;13)(q11;q14)t(?7;?11)(p11;q13)t(?7;?11)(p13; q21), der(7)t(2;7)(p21;q11), dic(13;20)(q12;p11), +idic(13)(q11), +der(20)t(20;22)(q11-13;q11), -22/ 37-42, X, -X, der(5;17), -7, -12, der(16)t(7;16)(?p11;?p13), der(18)t(12;18)(q11;p11), der(?21)t(X;21)(p11;p11)del(21)(q?) acute myeloid leukemia p11 p13     11979548 11 Mitelman Database, Reference No. 9492 Edit
1203 14978788_2_1 44, XX, -5, der(7)t(5;7)(p11;p11)t(5;7)(q13;q22)t(5;7)(q23; q34), -11, der(18)t(11;18)(q?;p11.2)hsr(11;18)(q?;p11.2) refractory anemia with excess of blasts in transformation p11       14978788, 12946992 P2 [14978788], 23 [12946992] Mitelman Database, Reference No. 10467 Edit
1204 10867145_1 44, XY, inv(1)(p13q21), der(3)t(3;7)(p11;p11), t(5;12)(q13;p13), add(7)(q?), add(18)(p11), -19, -20/ 44, XY, inv(1), der(3)t(3;7), der(5)t(5;12), add(7), der(12)del(12)(p11p13)t(5;12), add(18), -19, -20 acute myeloblastic leukemia - M2 p11       10867145   Mitelman Database, Reference No. 8661 Edit
1205 15588849_2 46, XY, del(1)(q42), add(4)(p16), del(9)(q32), t(9;11)(q22;q13), add(10)(q26), add(17)(q25) [7]/46, XY, del(1)(q42), t(1;14)(q25;q22), der(6)t(6;16)(p21;q22), add(12)(p12), der(16)add(16)(p12)t(6;16), add(17)(q11), der(17)t(16;17)(q12∼13;q11∼21)add(17)(p11), add(19)(q13) [4] [primary tumor]
41-43, X, +i(X)(p10), -Y, add(1)(p11), add(3)(p11), der(3)t(3;?10)(q27;q22), -4, der(4)t(4;8)(q35;q22), -5, -7, der(7)t(7;7)(p11;q31), -8, der(8)t(2;8)(p14;p23), -9, -9, -10, add(10)(p11), -11, add(13)(q32), -14, -15, der(16)t(11;16)(q13;q13)der(11)t(11;11)(q25;q13)ins(11;?)(q13; ?), +der(16)del(16)(p12)t(11;16)t(11;11)ins(11;?), -18, -18, -19, add(20)(p11), -21, -22, +der(?)t(?;1)(?;q21), +der(?)t(?;3)(?;p11)t(3;5)(p26;q11), +der(?)t(?;7)(?;q11), +5-7mar [cp39] [metasitasis, external autitory meatus]
squamous cell carcinoma of the larynx p11 q31     15588849 2 Mitelman Database, Reference No. 10815 Edit
1206 15588849_10 65-70, XX, -X, +add(1)(p36), +del(1)(q11), der(1;?12)(q10;p10), inv(1)(p36q25), der(2)t(2;14)(p21;q13), +add(3)(q12)x2, der(3)t(3;9)(p11;q13)x2-3, der(4)t(4;?10)(p16;q22)add(4)(q35)x3, -5, +7, -8, der(8)t(8;13)(p23;q14)x2, der(8;9)(q10;q10), +9, +9, -10, -10, +der(11)t(3;11)(q21;q13)hsr(3;11)(q21;q13), +i(13)(q10), -14, der(14)t(7;14)(p11;p11)ins(14;?)(p11;?), i(14)(q10), -15, -15, i(15)(q10), -16, add(16)(p13), -18, -18, -20, -21, add(21)(p11), idic(22)(p1?2), +2mar [cp11] [primary tumor]
65-67, XX, -X, der(1;?12), +inv(1), der(2)t(2;14), add(3)+add(3), der(3)t(3;9)x2, der(4)t(4;?10)add(4)x3, -5, +7, der(8)t(8;13)x2, der(8;9), +9, -10, +der(11)t(3;11)hsr(3;11)x2, -14, der(14)t(7;14)ins(14;?), i(14)(q10), -15, -15, i(15)(q10), -16, -18, -18, -21, add(21)x2, idic(22), +mar [cp3] [metastasis, neck lymph node]
squamous cell carcinoma of the oro- and hypopharynx p11       15588849 10 Mitelman Database, Reference No. 10815 Edit
1207 15593324_81 46, XY, add(1)(p?22), der(8)t(7;8)(p11;p11), add(11)(q?13), add(12)(q15-21)/4 6, idem, ?inv(2)(p?25q?14) lipoma p11       15593324 81 Mitelman Database, Reference No. 10827 Edit
1208 2317767_2 46, XX [1]/ 46, XX, +der(1)t(1;7)(p11;p11), -7 [at diagnosis]
46, XX, +der(1)t(1;7), -7 [10]/ 46, XX, +der(1)t(1;7), -7, +21, der(21;21)(q10;q10) [3] [AL]
essential thrombocythemia --> acute leukemia (after Cx) p11       2317767, 16164981 patient 2 [2317767], 2 [16164981] Mitelman Database, Reference No. 3268 Edit
1209 15039973_DD8202794 46, XX, inv(7)(p11q22) pat, inv(1)(q25q42) pat abnormal phenotype p11 q22     15039973 DD8202794   Edit
1210 2340488_1 44, XX, -5, -7, der(17)t(7;17)(p11;p11) [11]/ 46, XX [2] [bone marrow] refractory anemia with excess of blasts --> refractory anemia with excess of blasts in transformation (after 4 months) p11       2340488 1 Mitelman Database, Reference No. 3375 Edit
1211 2340488_2 43, XY, -5, -7, -12, -16, der(17)t(7;17)(p11;p11), +mar [12]/ 46, XY [1] [bone marrow] acute myeloblastic leukemia - M2 p11       2340488 2 Mitelman Database, Reference No. 3375 Edit
1212 2340488_3 42-43, X, -Y, -4, del(4)(q24), -7, add(11)(p11), der(17)t(7;17)(p11;p11), add(19)(p13), inc [19]/ 46, XY [2] [bone marrow] acute myeloblastic leukemia - M2 p11       2340488 3 Mitelman Database, Reference No. 3375 Edit
1213 2340488_4 45, XY, -3, -4, -5, -7, -12, +11, der(17)t(7;17)(p11;p11), +3mar [16]/ 46, XY [12] [bone marrow] acute myeloblastic leukemia - M2 p11       2340488 4 Mitelman Database, Reference No. 3375 Edit
1214 2340488_11 45, XX, del(5)(q12q32), -7, der(17)t(7;17)(p11;p11)/ 44, idem, -X, add(3)(p13), del(4)(q26) [bone marrow] acute myeloblastic leukemia - M2 p11       2340488 11 Mitelman Database, Reference No. 3375 Edit
1215 16283619_21 46, XY, der(1)t(1;7)(p13;p11), del(4)(q11q33), -7, +9 post-transplant lymphoproliferative disorder (PTLD) - diffuse large B-cell lymphoma p11       16283619 21 Mitelman Database, Reference No. 11306 Edit
1216 16364762_37 65-121, X, -X, -Y, del(1)(p13), add(2)(p11), der(2)t(2;11)(p14;q13), i(3)(q10), add(7)(p11), i(8)(q10), inc squamous cell carcinoma of the oral cavity - tongue p11       16364762 37 Mitelman Database, Reference No. 11284 Edit
1217 16102580_30 44, XX, der(5;7)t(5;7)(p1?;p11) t(5;7)(q11;q11) t(5;7)(p1?; q11), -11, der(11;11)t(11;11)(q21;q23)t(11;11)(q23;q10) t(11;11)(q10;q23) t(11;11)(q23;q21) t(11;11)(q11;p11)hsr(11)(q23), r(14) [39]/ 46, XX [2] acute myeloblastic leukemia - M2 p11 q11     16102580 30 Mitelman Database, Reference No. 11217 Edit
1218 16938582 46, XX, -5, der(7)t(5;7)(q11;p11-12), +21c [4]/ 47, idem, +r [3]/ 47, XX, +21c [1] [at onset] acute megakaryoblastic leukemia, Down syndrome p11- 12       16938582   monosomy of 7p11-pter; ring chromosome was derived from chr. 7, and centromere painting revealed no signal in the ring chr. Edit
1219 16938575_1 45, XX, dic(7;9)(p11;p11), t(9;22)(q34;q11.2) [10]/ 46, XX [5] B cell acute lymphoblastic leukemia - L1 p11       16938575 1 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1220 16938575_2 46, XY, t(9;22) [5]/ 45, idem, dic(7;9)(p11;p11) [5] B cell acute lymphoblastic leukemia - L1 p11       16938575 2 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1221 16938575_3 47, XY, dic(7;9)(p11;p11), +8, t(9;22), +Ph [14]/ 46, XY [1] B cell acute lymphoblastic leukemia - L2 p11       16938575 3 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1222 16938575_4 45, XY, dic(7;9)(p11;p11) [9]/ 46, XY [9] T cell acute lymphoblastic leukemia - L2 p11       16938575 4 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1223 16938575_5 45, XX, dic(7;9)(p11;p11), t(9;10)(p13;q22) [10] B cell acute lymphoblastic leukemia - L2 p11       16938575 5 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1224 16938575_6 45, XY, dic(7;9)(p11;p11) [4]/ 46, XY [6] B cell acute lymphoblastic leukemia - L2 p11       16938575 6 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1225 16938575_7 45, XY, der(3;5), del(5), dic(7;9)(p11;p11), t(9;22 ) [7]/ 46, XY [3] B cell acute lymphoblastic leukemia - L1 p11       16938575 7 monosomy of 7p11-pter; Mitelman Database, Reference No. 11605 Edit
1226 11343378_29 45, XX, dic(7;9)(p11;p11) [5]/ 46, XX [12] early pre-B cell acute lymphoblastic leukemia p11       11343378, 16938575 29 [11343378], 15 [16938575] Mitelman Database, Reference No. 9125 Edit
1227 8418369_4 45, XY, dic(7;9)(p11;p11) pre-pre-B cell acute lymphoblastic leukemia - L2 p11       8418369, 16938575 4 [8418369], 17 [16938575] Mitelman Database, Reference No. 4743 Edit
1228 14669294_31 45, XY, dup(1)(p3?3p35), dic(7;9)(p11;p11) [4]/ 45, idem, del(8)(p21) [10]/ 46, XY, dup(1) [2] B cell acute lymphoblastic leukemia p11       14669294, 16938575 31 [14669294], 11 [16938575] Mitelman Database, Reference No. 10441 Edit
1229 14669294_32 45, XX, dic(7;9)(p11;p11), -20, +mar [19]/ 46, XX [1] pre-B cell acute lymphoblastic leukemia - L1 p11       14669294, 16938575 32 [14669294], 8 [16938575] Mitelman Database, Reference No. 10441 Edit
1230 14669294_33 45, XY, dic(7;9)(p11;p11) [16]/ 46, XY [3] pre-B cell acute lymphoblastic leukemia - L1 p11       14669294, 16938575 33 [14669294], 9 [16938575] Mitelman Database, Reference No. 10441 Edit
1231 14669294_34 45, XX, dic(7;9)(p11;p11) [10]/ 46, XX [5] early pre-B cell acute lymphoblastic leukemia - L1 p11       14669294 34 [14669294], 10 [16938575] Mitelman Database, Reference No. 10441 Edit
1232 14669294_35 45, XY, del(6)(q14q23), dic(7;12)(p11;p11) [2]/ 46, idem, +mar [3]/ 46, XY [2] B cell acute lymphoblastic leukemia p11       14669294 35 Mitelman Database, Reference No. 10441 Edit
1233 14669294_36 45, XX, del(1)(q32), dic(7;12)(p11;p11) [12]/ 46, XX [8] B cell acute lymphoblastic leukemia p11       14669294 36 Mitelman Database, Reference No. 10441 Edit
1234 9595040_15 45, XX, dic(7;9)(p11;p11) [8] acute lymphoblastic leukemia p11       9595040, 16938575 14 [9595040], 18 [16938575] Mitelman Database, Reference No. 7374 Edit
1235 16616106_63 43, XX, −5, del(6)(q26), −7, +der(7;12)(7pter→ p11::12?::7q?→ 7qter), −12, der(del(13)(q13q21);15)(q10;q10), der(21)t(12;21)(q?;q22) [?]/ 46, XX [10] refractory anemia, therapy-related p11 q?     16616106 63   Edit
1236 2551485_A 46, XY, +der(1)t(1;7)(p11;p11), -7 [15]/ 46, XY [5] myelodysplastic syndrome p11       2551485 patient A Mitelman Database Reference No. 3321 Edit
1237 2551485_B 46, XY, +der(1)t(1;7)(p11;p11), -7 [7]/ 46, XY [10] refractory anemia p11       2551485 patient B Mitelman Database Reference No. 3321 Edit
1238 2331680 45, X, -X, idic(7)(p11) polycystic unilateral renal hemangioma p11       2331680   Mitelman Database Reference No. 3324 Edit
1239 16156859_11_1 47, XY, add(2)(q32), add(3)(p25), add(7)(p11), +i(7)(p10), add(14)(p11), add(15)(p11), -17, +20 [cp6] nodal marginal zone B-cell lymphoma p11       16156859 11 Mitelman Database Reference No. 11189 Edit
1240 17063086_48 44-46, XY, der(7)t(7;14)(p11;q11), ?del(14)(q11) [cp3] T-cell acute lymphoblastic leukemia p11       17063086 48 Mitelman Database, Reference No. 11644 Edit
1241 17063086_79 46, XY, dic(7;9)(p11;p11) [8]/ 46, XY [1] pre B-cell acute lymphoblastic leukemia p11       17063086 79 Mitelman Database, Reference No. 11644 Edit
1242 18617058_case 1 46,XY,+1,dic(7;16)(p11;q11)/46,X Y spindle cell liposarcoma, deaf, mute, mild mental retardation, surgery as child for malposition of large vessels p11       18617058 Case 1   Edit
1243 19308660 45, XY, dic(7;12)(p11;p11) [4/20/48, XY, dic(7;12)(p11;p11), +mar1, +mar2 [5/20] T/myeloid biphenotypic acute leukemia p11       19308660     Edit
1244 9806579_t(7;9) 46, XX, t(7;9)(p10;p10) infertility, candidate for intracytoplasmic sperm infection p10       9806579 t(7;9), MCN ID: 19980031-999 www.mcndb.org Edit
1245 7082837_10 46, XY, +1, der(1;7)(q10;p10) myelodysplastic syndrome p10       7082837 10 Mitelman Database, Reference No. 485 Edit
1246 7703482_11 46, XY, t(7;16)(p10;q10) Myelodysplasia and chronic myelomonocytic leukemia p10       7703482 11 identical twin; father also had translocation but no hematologic abnormality Edit
1247 7703482_12 46, XY, t(7;16)(p10;q10) Myelodysplasia and chronic myelomonocytic leukemia p10       7703482 12 identical twin; father also had translocation but no hematologic abnormality Edit
1248 11685205_11532 46, XY, t(6;7)(p10;p10) WBS facies in childhood, developmental delay p10       11685205 11532   Edit
1249 11745186_31 50, XY, +add(3)(p11), +i(7)(p10)x2, +mar [20]/ 46, XY [5] papillary thyroid carcinoma p10       11745186 31   Edit
1250 Unpublished_41 46, XX, t(7;12)(p10;p10) no phenotype given p10       41 data unpublished Edit
1251 2743817_1 46, XX, +1, der(1;7)(q10;p10), del(12)(p12p13) refractory anemia with excess of blasts, polycythemia vera p10   D7Z2/ D7Z1   2743817, 1591707 1 Mitelman Database, Reference No. 2942 Edit
1252 2743817_2 46, XY, +1, der(1;7)(q10;p10) myleodysplastic syndrome, leukemia p10   D7Z2/ D7Z1   2743817, 1591707 2 Mitelman Database, Reference No. 2942 Edit
1253 2225528_3_2 46, XY, der(2)t(2;7)(q37.3;q11.1), i(7)(p10) de novo patent ductus arteriosus, pulmonary insufficiency, large anterior fontanel, minor facial anomalies, postaxial polydactyly, developmental delay p10       2225528, 7702099, 10494083 case 3 (BWIS#2074) [2225528], case 2 [10494083] trisomy of 7p Edit
1254 6733676_42 41, XX, -4, -5, del(6)(q16), der(7;12)(p10;q10), -11, -12, -18, -21, +mar [24] non-Hodgkin's lymphoma -> acute myeloblastic leukemia - M2 p10       6733676, 8527385 42 [6733676], 5 [8527385] Mitelman Database, Reference No. 1126 Edit
1255 12816870_1 46, XY, +1, der(1;7)(q10;p10), add(10(q?)[20] refractory anemia p10   D7Z2/ D7S2014   12816870 1 Mitelman Database, Reference No. 10371 Edit
1256 12816870_2 46, XY, +1, der(1;7)(q10;p10)[18] refractory anemia p10   D7Z2/ D7S2014   12816870 2 Mitelman Database, Reference No. 10371 Edit
1257 12816870_3 46, XY, +1, der(1;7)(q10;p10)[9]/4 6, XY[6] refractory anemia p10   D7Z2/ D7S2014   12816870 3 Mitelman Database, Reference No. 10371 Edit
1258 12816870_4 46, XY, +1, der(1;7)(q10;p10), del(20)(q11)[12]/4 5, idem, -20[4] refractory anemia p10   D7Z2/ D7S2014   12816870 4 Mitelman Database, Reference No. 10371 Edit
1259 12816870_5 46, XY, +1, der(1;7)(q10;p10)[5]/4 7, idem, +8 [13] myelodysplastic syndrome, myelofibrosis p10   D7Z2/ D7S2014   12816870 5 Mitelman Database, Reference No. 10371 Edit
1260 12816870_6 46, XY, +1, der(1;7)(q10;p10)[3]/4 6, XY[18] therapy-related refractory anemia p10   D7Z2/ D7S2014   12816870 6 Mitelman Database, Reference No. 10371 Edit
1261 12816870_7 46, XX, +1, der(1;7)(q10;p10)[12]/4 6, X, -X, +1, der(1;7)(q10;p10), +der(1;7)(q10;p10), -2, +5, +6, -8, -12, +14, -16, -17, +18 therapy-related myelodysplastic syndrome p10   D7Z2/ D7S2014   12816870 7 Mitelman Database, Reference No. 10371 Edit
1262 12816870_8 46, XY, +1, der(1;7)(q10;p10)[18]/4 6, XY[2] therapy-related refractory anemia p10   D7Z2/ D7S2014   12816870 8 Mitelman Database, Reference No. 10371 Edit
1263 12816870_9 46, XY, +1, der(1;7)(q10;p10)[1]/4 7, idem, +8[2/20]/46, idem, del(20)(q11) [2]/ 47, idem, +8, del(20)(q11)[15] therapy-related refractory anemia p10   D7Z2/ D7S2014   12816870 9 Mitelman Database, Reference No. 10371 Edit
1264 12816870_10 46, XY, +1, der(1;7)(q10;p10)[19]/4 5, X, -Y, idem[1] refractory anemia with excess blasts p10   D7Z2/ D7S2014   12816870 10 Mitelman Database, Reference No. 10371 Edit
1265 12816870_11 46, XY, +1, der(1;7)(q10;p10)[20] myelodysplastic syndrome p10   D7Z2/ D7S2014   12816870 11 Mitelman Database, Reference No. 10371 Edit
1266 12816870_12 46, XY, +1, der(1;7)(q10;p10)[10]/4 6, XY[10] myelodysplastic syndrome p10   D7Z2/ D7S2014   12816870 12 Mitelman Database, Reference No. 10371 Edit
1267 12816870_13 46, XY, +1, der(1;7)(q10;p10)[12]/4 6, XY[8] refractory anemia p10   D7Z2/ D7S2014   12816870 13 Mitelman Database, Reference No. 10371 Edit
1268 12816870_14 46, XY, +1, der(1;7)(q10;p10)[20] acute myeloblastic leukemia - M0 p10   D7Z2/ D7S2014   12816870 14 Mitelman Database, Reference No. 10371 Edit
1269 12816870_15 46, XY, +1, der(1;7)(q10;p10)[5]/4 7, idem[1], +8[16] therapy-related acute myeloblastic leukemia - M2 p10   D7Z2/ D7S2014   12816870 15 Mitelman Database, Reference No. 10371 Edit
1270 12816870_16 47, XY, +1, der(1;7)(q10;p10), del(20)(q?), del(20)[9]/4 6, XY[10] refractory anemia p10   D7Z2/ D7S2014   12816870 16 Mitelman Database, Reference No. 10371 Edit
1271 12816870_17 46, XY, +1, der(1;7)(q10;p10)[18]/4 6, XY[4] refractory anemia p10   D7Z2/ D7S2014   12816870 17 Mitelman Database, Reference No. 10371 Edit
1272 12816870_18 46, XY, +1, der(1;7)(q10;p10)[16]/4 6, XY[2] myelofibrosis p10   D7Z2/ D7S2014   12816870 18 Mitelman Database, Reference No. 10371 Edit
1273 12816870_19 46, XY, +1, der(1;7)(q10;p10) [3]/47, idem, +8[16]/ 46, XY[2] refractory anemia p10   D7Z2/ D7S2014   12816870 19 Mitelman Database, Reference No. 10371 Edit
1274 12816870_20 46, XY, +1, der(1;7)(q10;p10)[13]/4 6, XY[1] therapy-related refractory anemia p10   D7Z2/ D7S2014   12816870 20 Mitelman Database, Reference No. 10371 Edit
1275 12816870_21 46, XY, +1, der(1;7)(q10;p10)[14]/4 6, XY[6] therapy-related refractory anemia with excess blasts p10   D7Z2/ D7S2014   12816870 21 Mitelman Database, Reference No. 10371 Edit
1276 12816870_22 46, XY, +1, der(1;7)(q10;p10)[2]/4 6, XY[18] refractory anemia p10   D7Z2/ D7S2014   12816870 22 Mitelman Database, Reference No. 10371 Edit
1277 12816870_23 46, XY, +1, der(1;7)(q10;p10)[1]/4 6, XY, del(13)(q10q21)[4]/4 6, XY[14] myelofibrosis p10   D7Z2/ D7S2014   12816870 23 Mitelman Database, Reference No. 10371 Edit
1278 12816870_24 46, XY, +1, der(1;7)(q10;p10)[5]/4 6, XY[16] therapy-related multiple myeloma p10   D7Z2/ D7S2014   12816870 24 Mitelman Database, Reference No. 10371 Edit
1279 12816870_25 46, XY, +1, der(1;7)(q10;p10)[9] therapy-related refractory anemia p10   D7Z2/ D7S2014   12816870 25 Mitelman Database, Reference No. 10371 Edit
1280 12816870_26 46, XY, +1, der(1;7)(q10;p10)[17]/ 45, idem, -14 [1]/45, idem, -21 [1]/ 46, XY[1] acute myeloblastic leukemia - M0 p10   D7Z2/ D7S2014   12816870 26 Mitelman Database, Reference No. 10371 Edit
1281 12816870_27 46, XY, +1, der(1;7)(q10;p10), +8[4]/47, idem, del(20)(q11)[1]/4 6, XY[1] myelodysplastic syndrome/acute myeloid leukemia p10   D7Z1/ D7S2014   12816870 27 Mitelman Database, Reference No. 10371 Edit
1282 1132882_1 47, XY, -7, +fis(7)(pter-> p10:), +fis(7)(qter-> q10:) phenotypically normal p10   D7S494/ D7Z1   1132882, 752519, 1663489 Ru [752519, 1663489] somatic cell hybrid clone: Ru RAG 14-4-7-44 (7pter-7cen)(D7Z2+, D7Z1+): www.uni-marburg.de/h umgen Edit
1283 14506701_sister1_1 46, XX, +1, der(1;7)(q10;p10), t(7;22)(p13;q11.2)/ 47, idem, +21 polycythemia vera, acute myeloid leukemia p10       14506701 first sister sister of 14506701_sister2 Edit
1284 11241791_26 45, XX, der(7)t(7;9;22), -9, der(22)t(9;22) [6]/46, XX [2] [karyotyped by SKY] B-lineage acute lymphoblastic leukemia p10       11241791 UPN 26 der(7)t(7;9;22)(p10;q10;q11) [banding karyotype] Edit
1285 6733676_38_1 46, XY, +1, der(1;7)(q10;p10)/ 46, XY,-5, del(7)(q22), +8, +der(21;21)(q10;q10), -22 Hodgkin's lymphoma -> acute myeloblastic leukemia - M1 p10       6733676, 4052982, 1591707 38 [6733676], 20 [4052982] Mitelman Database, Reference No. 1126 Edit
1286 6733676_44 46, XY, +1, der(1;7)(q10;p10) multiple myeloma -> myelodysplastic syndrome p10       6733676, 4052982, 1591707 44 [6733676], 21 [4052982] Mitelman Database, Reference No. 1126 Edit
1287 4052981_1 46, XX, +1, der(1;7)(q10;p10)/ 47, idem, +21 idiopathic thrombocythemia p10       4052981, 3060251, 1591707 1 [4052981], 29 [3060251] Mitelman Database, Reference No. 1370 Edit
1288 4052981_2 46, XX, +1, der(1;7)(q10;p10)/ 46, XX ovarian carcinoma, therapy-related acute myeloid leukemia p10       4052981, 3060251, 1591707 2 [4052981], 30 [3060251] Mitelman Database, Reference No. 1370 Edit
1289 4052981_3 46, XX, +1, der(1;7)(q10;p10) lymphoma, myelodysplastic syndrome p10       4052981, 3060251, 1591707 3 [4052981], 31 [3060251] Mitelman Database, Reference No. 1370 Edit
1290 4052981_4 46, XY, +1, der(1;7)(q10;p10) acute myeloblastic leukemia - M1 p10       4052981, 3060251, 1591707 4 [4052981], 32 [3060251] Mitelman Database, Reference No. 1370 Edit
1291 12775237_1 47, XX, -7, +der(1;7)(q10;p10), +8 [17]/ 46, XX [5] refractory anemia with excess of blasts p10       12775237 1 Mitelman Database, Reference No. 10156 Edit
1292 12775237_2 46, XY, -7, +der(1;7)(q10;p10) [25] acute myelomonocytic leukemia - M4 p10       12775237 2 Mitelman Database, Reference No. 10156 Edit
1293 12775237_3 45, XX, 4p-, -5, -7, +der(1;7)(q10;p10), -17, +mar [6]/ 46, XX [22] refractory anemia with excess of blasts p10       12775237 3 Mitelman Database, Reference No. 10156 Edit
1294 12775237_4 46, XY, -7, +der(1;7)(q10;p10) [12] [06/2000] 46, XY, -7, +der(1;7)(q10;p10) [17] / 47, XY, -7, +der(1;7)X2, -9, -12, +13, +18, +19, -21 [1]/ 46, XY [3] [03/2001] refractory anemia p10       12775237 4 Mitelman Database, Reference No. 10156 Edit
1295 12775237_5 46, XY, -7, +t(1;7)(q10;p10) [4]/ 46, XY [29] refractory anemia p10       12775237 5 Mitelman Database, Reference No. 10156 Edit
1296 10086728_248 46, XY, +1, der(1;7)(q10;p10) refractory anemia p10       10086728 EWOG 248 Mitelman Database, Reference No. 7896 Edit
1297 10086728_120 47, XX, +8/ 46, XX, +1, der(1;7)(q10;p10) refractory anemia with excess of blasts p10       10086728 EWOG 120 Mitelman Database, Reference No. 7896 Edit
1298 6498788_4 45, XY, der(7;17)(p10;q10), -8, -15, +der(?)t(?;15)(?;q1?3), +mar/ 46, idem, +mar acute myeloblastic leukemia - M2 p10       6498788 4 Mitelman Database, Reference No. 1179 Edit
1299 3530564 46, XX, t(5p7p;5q7q) [46, XX, t(5;7)(p10;p10) according to ISCN 1995] Russell-Silver syndrome p10 q10     3530564 M.S.; MCN ID: 19860002-008 www.mcndb.org Edit
1300 9188138_46 46, XY, t(7;21)(7p21q;7q21p) infertility p10 q10     9188138 patient 46   Edit
1301 3315191_N57 48, XY, +6, del(6)(q21)x2, +i(7)(p10), t(8;14)(q24;q32), der(14)t(8;14) [5]/ 46, XY [3] diffuse large B-cell lymphoma p10       3315191 N57 Mitelman Databaase, Reference No. 2345 Edit
1302 8816891_chromophobe-3 40, XY, -1, -2, -6, t(7;11)(p10;q10), -10, -13, -17 [16]/ 39, idem, -18 [4] chromophobe renal cell carcinoma p10       8816891 3 in Table 1 Mitelman Database, Reference No. 6830 Edit
1303 8816891_papillary-4_1 41-53, X, -Y, t(7;17)(p10;q10), +7, +12, +17,+3r [cp20] nonpapillary renal cell carcinoma p10       8816891 4 in Table 3. Mitelman Database, Reference No. 6830 Edit
1304 9669835_10_1 44, XX, der(4)t(4;5;7;13), del(5)(q11q35), t(5;12)(q?;p12), add(7)(p10), del(7)(p?), +der(7)t(4;7)ins(7;?), del(11)(p?), -13, -16, -21, -22/ 46, XX acute megakaryoblastic leukemia - M7 p10       9669835 10 Mitelman Database, Reference No. 7769 Edit
1305 MCN_19970112-224 46, X, t(X;7)(Xp7q)(Xq7p) mental retardation p10       MCN ID: 19970112-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
1306 MCN_19970118-224 46, X, t(X;7)(p10;p10) mental retardation, wasted/very thin build/FTT p10       MCN ID: 19970118-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
1307 MCN_19970001-227 46, XY, t(7;22)(p10;p10) infertility p10       MCN ID:19970001-227 www.mcndb.org Edit
1308 1486571 46, XY, -7, der(1;7)(q10;p10) myelodysplastic syndrome p10       1486571   Mitelman Database, Reference No. 4610 Edit
1309 12537976_6 45, X, -Y, +1, der(1;7)(q10;p10) [2]/ 45, XY, t(6;15)(p23;q11.2), -13 [1]/ 46, XY [27] bone marrow aspirate/biopsy --> unremarkable marrow morphology p10       12537976 6 in Table 1   Edit
1310 12537976_9 45, XY, +1, der(1;7)(q10;p10) [17]/ 46, idem, del(13)(q12q14) [3] bone marrow aspirate/biopsy --> unremarkable marrow morphology p10       12537976 9 in Table 1   Edit
1311 8289502_6_1 77, XX, +X, -Y, +3, -4, +6, der(6)del(6)(q23)dup(6)(p25p21)x2, dup(7)(q22q32)x2, +i(7)(p10), +11, +11, +12, t(12;17)(p11;q11)x2, der(14)t(14;19)(q32;p13), t(14;19), add(15)(p13), -17, +19, +20, +21, +mar/ 80, idem, +8, +8, +16/ 45, X, -Y Hodgkin disease, mixed cellularity p10       8289502 6 Mitelman Database, Reference No. 5337 Edit
1312 7987800_41 45, XY, t(2;5)(p23;q35), der(7;10)(p10;q10), -10, t(10;12)(p12;q12), der(17)t(9;17)(p12;p11), add(18)(q22) [66] [lymph node] anaplastic large cell lymphoma, systemic type p10       7987800 41 (L15/85) Mitelman Database, Reference No. 5593 Edit
1313 2177640_467 87, X, -X, -X, -X, add(1)(p32), del(1)(p32), add(2)(q33)x2, +add(2)(q21)x2, add(3)(q29)x2, -4, der(5)t(5;9)(q35;q13), +add(6)(q27), +add(7)(q32)x3, +der(7)add(7)(p10)add(7)(q32), +i(8)(q10)x2, +9, +9, -14, -14, -14, -16, -16, -17, +19, add(19)(q13)x2, der(19)t(14;19;19;14)(q11;p13;q13;q11)x2, +21, +21, +22, +22, +22 diffuse large B-cell lymphoma p10 q32     2177640 467 Mitelman Database, Reference. No. 3347 Edit
1314 6883347_3 67, XX, -X, der(3)t(3;6)(q29;q13)del(6)(q21), der(4;7)(q10;p10),d el(6)(q13q21), +8, +9, -10, -11, der(13)t(1;13)(q21;q34), -14, +17, +19, +20, +20, -21, -22 malignant melanoma p10       6883347 3 Mitelman Database, Reference No. 1307 Edit
1315 8618441_10 46, XY, add(7)(p10), add(7)(q22) therapy-related myelodysplastic syndrome p10 q22   D7S64$/ D7S1837 8618441, 10398433 10 [8618441], 1 [10398433] Mitelman Database, Reference No. 6617 Edit
1316 10942371_41 47, XX, der(1;7)(q10;p10), +8, add(15)(q25), dup(17)(q11q21) acute promyelocytic leukemia - M3 p10       10942371 41 Mitelman Database, Reference No. 8691 Edit
1317 7812918_3 46, XY, t(1;7)(q10;p10) polycythemia vera --> therapy-related acute myeloblastic leukemia - M2 p10       7812918 3 Mitelman Database, Reference No. 5836 Edit
1318 7522537_7_1 44, XY, der(5)t(7;5;7), add(7)(q10), der(7)add(7)(p10)add(7)(q3?), add(9)(p21), -12, -18 refractory anemia with excess of blasts p10 q3?     7522537 7 Mitelman Database, Reference No. 5401 Edit
1319 8355514 46, XY, der(1;7)(q10;p10), -7, inv(16)(p13q22) [100%] acute myeloblastic leukemia - M1 p10       8355514   Mitelman Database, Reference No. 5083 Edit
1320 9444933_330 47, XY, der(1;7)(q10;p10), der(1;20)(p10;q10), der(7;20)(q10;p10), +12 chronic lymphocytic leukemia p10       9444933 330 Mitelman Database, Reference No.7434 Edit
1321 15127233 46, XY, +1, der(1;7)(q10;p10) [20] chronic eosinophilic leukemia p10       15127233     Edit
1322 8033058_2 63-68, XXY, +Y, +1, del(1)(p31.2p34.3)x2, -3, -4, -5, +6, add(6)(p21)x2, del(7)(q10), der(7;11)(p10;q10), +i(7)(p10), tas(7;7)(q36;q36), tas(7;9)(q36;q34), +8,+i(9)(p10), tas(9;11)(q34;p15), tas(9;9)(q34;q34), -10, -11, del(11)(p10), tas(11;14)(p15;p13), +12, -13, +14, +15, del(15)(q15q26)x2, -17, +18, -19, -20, -21, -22, +r, +mar, dmin [cp30] Wilms tumor p10 q36     8033058   Mitelman Database, Reference No. 5699 Edit
1323 8033058_3 63-68, XXY, +Y, +1, del(1)(p31.2p34.3)x2, -3, -4, -5, +6, add(6)(p21)x2, del(7)(q10), der(7;11)(p10;q10), +i(7)(p10), tas(7;7)(q36;q36), tas(7;9)(q36;q34), +8,+i(9)(p10), tas(9;11)(q34;p15), tas(9;9)(q34;q34), -10, -11, del(11)(p10), tas(11;14)(p15;p13), +12, -13, +14, +15, del(15)(q15q26)x2, -17, +18, -19, -20, -21, -22, +r, +mar, dmin [cp30] Wilms tumor p10       8033058   Mitelman Database, Reference No. 5699 Edit
1324 15474154_5_1 60-68, XX, -Y, +X, del(1)(p13), +dic(1;16)(q22;p13), -2, -4, +i(5)(p10), +7, +7, i(7)(p10), i(7)(q10)x2, +10, der(10)t(3;10)(q25;q26)x2, -11, -13, -13, i(13)(q10), -15, -16, add(17)(p12), -18, add(19)(p13), -22 [cp15] pheochromocytoma p10 q10     15474154 5   Edit
1325 10572083_19 46, XX, i(7)(p10) acute myeloid leukemia p10       10572083 19 Mitelman Database, Reference No. 8407 Edit
1326 10572083_20 46, XX, i(7)(p10) acute myeloid leukemia p10       10572083 20 Mitelman Database, Reference No. 8407 Edit
1327 15325092_14 44, XX, -5, der(7;21)(p10;q10), del(11)(q?), der(17)t(5;17)(?;p11), -21 [10]/ 46, XX [2] [karyotyped by SKY]
rev ish enh(19p13.1), dim(5q11qter, 7p11pter) [detected by CGH]
refractory anemia with excess of blasts in transformation p10       15325092, 15611930 14 monosomy of 7p; Mitelman Database, Reference No.10754 Edit
1328 2400804_93 47, XY, +1, dic(1;7)(p11;q11), +8 [MDS]
46, XY, +1, der(1;7)(q10;p10), +8 [29] [AML-M4]
non-Hodgkin's lymphoma -->therapy-related myelodysplastic syndrome --> therapy-related acute myelomonocytic leukemia - M4 p10       2400804, 15142876 93 Mitelman Database, Reference No. 3584 & 10762 Edit
1329 2400804_104 47, XX, +1, der(1;7)(q10;p10), +8 [32] [RAEB, AML-M1] thymoma --> therapy-related refractory anemia with excess of blasts in transformation --> therapy-related acute myeloblastic leukemia - M1 p10       2400804, 15142876 104 Mitelman Database, Reference No. 3584 & 10762 Edit
1330 9824207_165 46, XX, +1, der(1;7)(q10;p10) [27] [RAEB, AML-M4] non-Hodgkin's lymphoma --> therapy-related refractory anemia with excess of blasts --> therapy-related acute myelomonocytic leukemia - M4 p10       9824207 165 Mitelman Database, Reference No. 7702 Edit
1331 15588849_11 86∼93, XXY, −Y, −2, del(3)(p12)x2, −4, −5, −5, i(6)(p10), −8, i(8)(q10), +del(9)(p11)x1∼2, −10, del(10)(p11)x1∼2, i(10)(q10), +11, +11, +del(11)(q13), −12, der(13)t(?3;?;13)(q12;?;q22), +add(15)(q22), −17, −18, −18, −19, +20, −21, −22, −22, +der(?)t(?;2)(?;q21), +4mar [cp15]/ 87∼91, XXY, −Y, −2, del(3)(p12)x2, −4, −5, −5, del(5)(q13q22), i(6)(p10), −8, i(8)(q10), −9, +del(9)(p11), −10, del(10)(p11)x1∼2, +11, +11, der(13)t(?3;?;13)(q12;?;q22), +14, +add(15)(q22), −17, −18, −18, +19, +20, +20, −21, −22, −22, +der(?)t(?;2)(?;q21), +4mar [cp9] [primary tumor]
86-92, XXY, -Y, del(3)x2, -4, -5, -5, i(6)(p10), i(7)(p10), -8, -8, i(8)(q10), +9, -10, del(10)x1-2, i(10)(q10), +11, +del(11)(p11), -13, der(13)t(3;13)ins(13;?), -18, -18, -19, +20, -21, -22, +5mar [cp6] [primary tumor]
squamous cell carcinoma of the bucca p10       15588849 11 Mitelman Database, Reference No. 10815 Edit
1332 15676151_2 46, X, t(X;20)(q13;q13), der(1;7)(q10;p10) [20]/ 46, XX [1] myelofibrosis, breast cancer --> acute myeloid leukemia p10       15676151 2 Mitelman Database, Reference No. 10826 Edit
1333 Rooney_BSHG2005_1 46, XY, +1, der(1;7)(q10;p10) [5]/ 46, XY, +1, der(7)t(1;7)(q10;p10)del(7)(p11.1p21.3) [15] [at diagnosis]
46, XY, +1, der(7)t(1;7)(q10;p10)del(7)(p11.1p21.3) [after Cx, MDS]
46, XY, +1, der(7)t(1;7)(q10;p10)del(7)(p11.1p21.3) [16]/ 47, idem, +8 [4] [AML]
myelodysplastic syndrome --> acute myeloid leukemia p10         monosomy of 7q; reported by Rooney et al. at British Human Genetics Conference 2005, Abstract #2.36 Edit
1334 16164981_6 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [9] [at diagnosis] idiopathic thrombocythemia p10       16164981 UPN 6 Mitelman Database, Reference No. 11235 Edit
1335 9194391 46, XY [7] [at diagnosis]
46, XY [2]/ 46, XY, +1, der(1;7)(q10;p10) [16] [MF]
48, XY, +1, der(1;7)(q10;p10), +2m [16] [AML-M0]
essential thrombocythemia --> myelofibrosis --> acute myeloblastic leukemia - M0 p10       9194391, 16164981 UPN 7 [16164981]   Edit
1336 16164981_8 46, XY [7] [at diagnosis]
46, XY, +1, der(1;7)(q10;p10) [9]/ 46, XY [3] [MF]
46, XY, +1, der(1;7)(q10;p10) [5]/ 47, XY, +1, der(1;7), +8 [13] [AML]
idiopathic thrombocythemia --> myelofibrosis --> acute myelomonocytic leukemia - M4 p10       16164981 UPN 8 Mitelman Database, Reference No. 11235 Edit
1337 15039973_DD0106541 46, XX, t(7;8)(p10;p10) de novo abnormal phenotype p10       15039973 DD0106541   Edit
1338 16164981_7 46, XY [7] [at diagnosis]
46, XY, +1, der(1;7)(q10;p10) [16]/ 46, XY [2] [MF]
48, XY, +1, der(1;7), +2mar [AML]
idiopathic thrombocythemia --> myelofibrosis --> acute myeloblastic leukemia - M0 p10       16164981 UPN 7 Mitelman Database, Reference No. 11235 Edit
1339 16527611_101 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [18] refractory anemia p10       16527611 101 monosomy of 7q Edit
1340 16527611_102 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [2]/ 46, XY [18] refractory anemia p10       16527611 102 monosomy of 7q Edit
1341 16527611_103 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [3]/ 46, XY [18] refractory anemia p10       16527611 103 monosomy of 7q Edit
1342 16527611_104 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [18]/ 46, XY [4] refractory anemia p10       16527611 104 monosomy of 7q Edit
1343 16527611_105 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [15]/ 46, XY [7] refractory anemia with excess of blasts p10       16527611 105 monosomy of 7q Edit
1344 16527611_106 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [13]/ 46, XY [1] refractory anemia p10       16527611 106 monosomy of 7q Edit
1345 16527611_107 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [9]/ 46, XY [6] refractory anemia p10       16527611 107 monosomy of 7q Edit
1346 16527611_108 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [15]/ 46, XY [5] myelomonocytic leukemia - M4 p10       16527611 108 monosomy of 7q Edit
1347 16527611_110 45, X, -Y [7]/ 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [6]/ 46, XY [7] (oral cancer -->) refractory anemia --> myelomonocytic leukemia - M4 p10       16527611 110 monosomy of 7q Edit
1348 16527611_111 45, XY, +1, der(1;7)(q10;p10), -20 [11] (lung cancer -->) refractory anemia --> refractory anemia with excess of blasts in transformation p10       16527611 111 monosomy of 7q Edit
1349 16527611_112 46, XY, +1, der(1;7)(q10;p10) [3]/ 47, XY, +1, der(1;7)(q10;p10), +8 [16]/ 46, XY [8] refractory anemia p10       16527611 112 monosomy of 7q Edit
1350 16527611_113 45, X, -Y [2]/ 46, XY, +1, der(1;7)(q10;p10) [11]/ 46, XY [8] (lung cancer -->) refractory anemia p10       16527611 113 monosomy of 7q Edit
1351 16527611_114 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [2]/ 46, XY [10] refractory anemia with excess of blasts p10       16527611 114 monosomy of 7q Edit
1352 16527611_115 46, XY, inv(9) [5]/ 46, XY, +1, der(1;7)(q10;p10), inv(9) [9]/ 46, XY, +1, der(1;7), del(20)(q11) [6] (esophagus cancer -->) refractory anemia p10       16527611 115 monosomy of 7q Edit
1353 16527611_116 46, XY, +1, der(1;7)(q10;p10), del(20)(q11) [2]/ 46, XY [10]/ 47 XY, +1, der(1;7), del(20)(q11), add(20)(q11) [9] refractory anemia p10       16527611 116 monosomy of 7q Edit
1354 16527611_117 46, XY, +1, der(1;7)(q10;p10) [4]/ 46, XY, +1, der(1;7), del(20)(q11) [17]/ 46, XY [2] refractory anemia --> refractory anemia with excess of blasts in transformation p10       16527611 117 monosomy of 7q Edit
1355 16527611_118 43-52, XY, +X, +1, +3, +7, der(1;7), +8, +9, +10, +11, +12, +14, +21, +22 [20] refractory anemia with excess of blasts p10       16527611 118 trisomy of 7p Edit
1356 16527611_119 46, XY, +1, der(1;7)(q10;p10), add(10)(q?) [20] (rectal cancer -->) refractory anemia p10       16527611 119 monosomy of 7q Edit
1357 16527611_120 45, XY, +1, der(1;7)(q10;p10), -20 [2]/ 45, XY, +1, der(1;7), del(20)(q11) [12]/ 45, XY, -20 [1]/ 46, XY [7] (gastric cancer -->) refractory anemia p10       16527611 120 monosomy of 7q Edit
1358 16527611_121 48-53, XX, del(5)(q33), +del(5)(q33), add(7)(p21), +1, der(1;7)(q10;p10), -8, +11, -13, add(15)(p?) [19] (radiation exposure -->)acute myeloblastic leukemia - M1 p10       16527611 121 monosomy of 7q Edit
1359 16527611_122 46, XY, +1, der(1;7)(q10;p10) [7]/ 47, XY, idem, +8 [12]/ 48, XY, idem, +8, +18 [1]/ 46, XY [1] (malignant sarcoma -->) acute myeloblastic leukemia - M2 p10       16527611 122 monosomy of 7q Edit
1360 16527611_123 46, XY, +1, der(1;7)(q10;p10) [1]/ 46, XY, idem, del(3)(q21) [2]/ 47, XY, idem, del(3)(q21), +8 [21] acute erythroleukemia - M6 p10       16527611 123 monosomy of 7q Edit
1361 16156859_11_2 47, XY, add(2)(q32), add(3)(p25), add(7)(p11), +i(7)(p10), add(14)(p11), add(15)(p11), -17, +20 [cp6] nodal marginal zone B-cell lymphoma p10       16156859 11 Mitelman Database Reference No. 11189 Edit
1362 16044456 46, XY, +1, der(1;7)(q10;p10) [3]/ 46, XY [6] [at diagnosis of AML] chronic lymphocytic leukemia --> therapy-related acute myeloid leukemia p10       16044456   Mitelman Database Reference No. 11084 Edit
1363 15759035_1 47, XY, +1, der(1;7)(q10;p10), +8 [4]/ 46, XY [29] refractory anemia p10       15759035 1 Mitelman Database Reference No. 10968 Edit
1364 15759035_2 47, XY, +1, der(1;7)(q10;p10), +8 [17]/ 46, XY [3] refractory anemia p10       15759035 2 Mitelman Database Reference No. 10968 Edit
1365 14654949_21 46, XY, der(7)t(1;7). ish dic(1;7)(pter->q10::p10->qter) [3]/ 46, XY [7] acute myeloid leukemia p10       14654949 21   Edit
1366 18988232_3 der(1;7)(q10;p10) myelodysplastic syndrome p10       18988232 6 affected individuals   Edit
1367 24013690 initial: 47,XY, +8 [11]/47,XY, del(2)(q21q31),+8[5]/46,X Y [2]; after transplantation: 46,XX, r(7)(p10p22)[26/3 1], 46,XX[5/31] refractory anemia with excess blasts, trilineage dysplasia; after cord blood transplantation: AML with myelodysplasia-related changes, donor cell-derived leukemia p10 p22     24013690     Edit
1368 24118308 50∼99,XXX, +der(1;7)(q10;p10),i nc[47] glioblastoma with oligodendroglioma component p10       24118308     Edit
1369 10958947 46, XY, del(7)(p13p1?4) [16]/ 46, idem, del(11)(q21) [2] low-grade B-cell mucosa-associated lymphoid tissue (MALT) lymphoma p1?4 p13     10958947 33 Mitelman Database, Reference No. 8647 Edit
1370 11694401_17_1 44, XX, der(5)t(5;17)(q11;q11), -7, -17/ 44-45, idem, der(X)t(X;7)(p21;p1?), t(4;5)(q31;q?31) refractory anemia with ringed sideroblasts p1?       11694401 17 Mitelman Database, Reference No. 9666 Edit
1371 18406869_B1_1 45,XY,dic(7;12)(p12.21;p12.2)47~50,X ,−X,+6,+der(7)t(7;8)(p1?1.2;q11.2),+ 9,+10,+12,der(16)t(1;16)(q1?1;q1?2.1)[cp12]/5 1~55,X,−X,+6,+i(7)(q10),i (8)(q10),+9,+10,+12,d er(16)t(1;16)(q1?1;q1?2.1)[cp2]/4 6,XX[12].arr(1q21)x3,( 7p12qter)x3,( 8p11.2qter)x3(16q12.1)x1 Wilms tumor, Mulibrey nanism syndrome p1?1.2       18406869 B1   Edit
1372 Unpublished_98KM1331 46, XX [del(7q) detected by FISH] acute myeloid leukemia     D7S1763/ MET$   98KM1331 data unpublished Edit
1373 Unpublished_97KM776 46, XX, del(3)(p21), del(5)(q13q33), -10, -12, add(19)(p13), -20, +3mar [7] [del(7q) detected by FISH] acute myeloid leukemia     NEDD2/ CLCN1   97KM776 data unpublished Edit
1374 Unpublished_1 46, XY, del(7) blindness, deafness, developmental delay pter qter     1 data unpublished Edit
1375 4752863 46, XX, del(7)(p15), 13ps [or t(7;13)(p?;p?)del(7)(p14p14)] craniosynostosis, acrocephaly, developmental delay, low-set ears, low nasal bridge, transverse palmar crease (rt), antimongoloid slant, small sacral dimple pter p10     4752863, 1002161, 711238, 537019, 7116680, 4043965, 3874588, 7521123 case 3 [537019], d [7116680], case 25 [7521123]   Edit
1376 2671374 46, XY, del(7)(p22.1) de novo psychomotor retardation, tetralogy of Fallot, hypoplastic genitalia, midfrontal hemangioma, congenital heart defect pter p22.1     2671374, 7521123 c [7521123]   Edit
1377 3781561 46, XX, del(7)(p21) trigonocephaly with craniosynostosis, high palate, atrial septal defect, anal atresia, perineal fistula, slightly retarded pyschomotor development pter p21     3781561, 1519644, 7521123, 12548740 case 24 [7521123], case 19 [12548740]   Edit
1378 7116680_CPG 46, XY, del(7)(p21) de novo prominent forehead with ridged metopic sutures, small low-set ears, short palpebral fissures, epicanthic folds, flat nasal bridge, cleft palate, preputial hypospadias, club-foot, no craiosynostosis pter p21     7116680, 3874588, 7521123 CPG [7116680], case 12 [7521123]   Edit
1379 1112608 46, XX, del(7)(p15) de novo craniosynostosis, trigonocephalia, ptosis, hypoplastic major labia, aorta stenosis?, severe developmental retardation pter p15     1112608, 1002161, 711238, 539602, 537019, 116680, 3874588, 4043965, 112608, 7521123, 12548740 case 4 [1002161, 539602 (Table 1), 537019], c [7116680], case 23 [7521123], case 6 [12548740]   Edit
1380 3237228_1 46, XX, del(7)(p13) de novo craniosynostosis, intrauterine growth retardation, mental retardation, plagioturricephaly, osseous defects of the parietal bones, short fingers, proximally Implanted thumbs, microphthalmia, hydronephrosis, pelvic malformation, reflux pter p13     7521123, 3237228, 12548740 Fall 1 [3237228], f [7521123], case 9 [12548740]   Edit
1381 3839444_4_1 46, X?, der(7)(qter-> p22::q21-> qter) de novo still born - no description pter p22     3839444, 7521123 case 4 [3839444], case 16 [7521123] monosomy of 7p22-pter & trisomy of 7q21-qter Edit
1382 12384779_TP 45, XX, t(7;14)(q?;q?)add(7)(p?) post-natal growth retardation pter qter     12384779 TP   Edit
1383 8362388_1 46, XY, der(7)del(7)(p21) inv(7)(p13p21) autism pter p21     8362388, 9813777, 11733747     Edit
1384 1995090_13_2 46, XY, i(7)(q10), der(8)t(5;8)(q14;p23), t(9;22)(q34;q11)/ 48, XY, del(7)(p13), del(7)(q22q32), t(9;22), del(13)(q11q22), del(16)(q13), +2mar acute lymphoblastic leukemia pter p13     1995090 13 Mitelman Database, Reference No. 3728 Edit
1385 8616020_44_1 49, X, t(X;15)(p11;q11), -5, +der(7)del(7)(p11)del(7)(q31q33), -11, del(11)(q22q23), add(14)(p13), -15, del(16)(q21), del(17)(p11), -21, +5r [cp17] acute myelomonocytic leukemia - M4, trilineage myelodysplasia pter p11     8616020 44 Mitelman Database, Reference No. 6510 Edit
1386 9447826_7 46, XX, del(7)(q?)/ 46, idem, t(1;6)(q23;p22) myelodysplastic syndrome cen qter D7S515/ D7S658 D7S523/ D7S687 9447826 7 Mitelman Database, Reference No. 7281 Edit
1387 10329610_S220 47, XY, del(7q?), t(1;2)(q32q32), add(17)(p13) splenic marginal B-cell lymphoma cen qter     10329610, 11830479 S220 [10329610], 220 [11830479]   Edit
1388 Unpublished_02KM146 46, XX, del(7)(q?) [13]/ 46, XX [1] acute myeloid leukemi cen qter D7S734/ D7S849   02KM146 data unpublished Edit
1389 Unpublished_97PB471 42, XX, inv(1), -5, del(7)(q?), +8, +8, +der(8), -10, -11, der(12), -19, -20, -21/ 44, XX, del(7)(q?), +8, +8, +der(8), -10, -11, der(12), -20, -20/ 47, XX, del(4), del(7)(q?), +8, +8, -10, der(12)/ 43, XX, t(3;19), del(7)(?), -10, -11, der(12), -16, -19, -20, +2mar acute myeloid leukemi cen qter APS$/ D7S2509   12690205 97PB471   Edit
1390 8136270_7 46, XX, del(7)(q?) [5] splenic marginal zone B-cell lymphoma cen qter     8136270, 9546069 7 Mitelman Database, Reference No. 5404 Edit
1391 3096136 46, XY, del(7)(cen-q11.2) severe mental retardation, spastic quadriplegia, narrow forehead, short nose, long ears and philtrum, malar hypoplasia, peridontal disease, pulmonic stenosis, severe kyphoscoliosis cen q11.2     3096136, 3354600, 2194394, 1456281 case 3 [2194394], case 4 [1456281]   Edit
1392 9834205_6_1 45, XY, del(7)(q31), -17 acute myeloid leukemia cen q31   D7S1763/ D7S2452 9834205, 12690205 6 Mitelman Database, Reference No. 7860 Edit
1393 11066076_8 47, XY, del(12)(p12), +19/ 46,XY [cryptic t(7;12)] acute monoblastic leukemia - M5 pter qter     11066076 8   Edit
1394 11066076_9 46, XY, t(3;8;12;21)(q13;q12q22;q12;q11q22), del(6)(q23), -15, +19 [cryptic t(7;12)] acute myeloid leukemia pter qter     11066076 9   Edit
1395 11066076_10 47, XY, +19 [cryptic t(7;12)] acute myeloblastic leukemia - M0 pter qter     11066076 10   Edit
1396 Unpublished_34 XX, t(7;13) phenotype not given pter qter     34 data unpublished Edit
1397 Unpublished_35 47, XYY, t(1;7) phenotype not given pter qter     35 data unpublished Edit
1398 Unpublished_36 XY, t(5;7)(p;p) GI difficulties, speech and motor problems pter p10     36 data unpublished Edit
1399 12017231_2 46, XY, rec(7)dup(7q) inv(7)(p22q35) mental retardation, epilepsy, spastic diplegia, cryptorchidism, facial dysmorphism pter p22     12017231   trisomy of 7q35-qter and monosomy of 7p22-pter Edit
1400 489013_1 46, XX, t(1;7)(p22;p15)del(7)(p15) craniosynostosis, marked turricephaly, hypotelorism, deeply cleft palate, shallow orbits with prominent bulgind eyes, a depressed nasal bridge, anteverted nostrils, short hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation pter p15.2     489013, 3874588, 4043965, 1519644, 7521123, 12548740 case 22 [7521123], 5 [12548740]   Edit
1401 11054065_6 46, X?, add(7)(p?), i(8)(q10) T-cell prolymphocytic leukemia pter p10     11054065 sample 6 Mitelman Database, Reference No. 8941 Edit
1402 8241509_29 41, XY, del(5)(q13q34), -7, -12, -16, -17, -18, del(20)(q13.1) [2]/ 43, XY, t(2;12)(p11;p11), del(5), -7, dic(12;16)(p11;q12), -17, del(20) [2]/ 46, XY [17] acute erythroleukemia - M6 pter qter     8241509 29   Edit
1403 8616020_51_2 47, XY, +7, del(7)(q21q31)x2 [9]/ 46, XY [1] myelodysplastic syndrome, acute myeloid leukemia pter qter     8616020 51 Mitelman Database, Reference No. 6510 Edit
1404 2922284_4 46, XY=5/46, XY, -7, +t(1;7)(cen;cen)=5/4 7, XY, -5, +6, -7, +t(1;7), +mar=1/48, XY, -7, +t(1;7), +13, +21=1 myelodysplasic syndrome cen       2922284 4   Edit
1405 7076262 47, XX, -7, +fis(7)(p10), +fis(7)(q10) mat history of three miscarriages cen       7076262 proposita (III-9) mother (II-5), brother (III-10), maternal grandfather (I-5), maternal aunt (II-2) and first cousin (III-4) had same centric fission (three generations): III-4 had multiple miscarriages; Edit
1406 2378982_31-34 45, XY, -7, t(9;22)(q34;q11) acute lymphoblastic leukemia pter qter     2378982, 1995090 31-34 [2378982], 6, 7, 10 [1995090] Mitelman Database, Referece No. 3580 Edit
1407 2378982_27 45, XY, t(2;9;22)(q11;q34;q11), -7 acute lymphoblastic leukemia - L2 pter qter     2378982, 1995090 27 [2378982], 3 [1995090] Mitelman Database, Reference No. 3580 Edit
1408 2378982_14 45, XY, -7, t(9;22;10)(q34;q11;p13), +del(?11)(p11), -20 acute lymphoblastic leukemia - L1 pter qter     2378982, 1995090 14 [2378982], 4 [1995090] Mitelman Database, Reference No. 3580 Edit
1409 3879440_proband 46, XY, del(7)(cenq21) mat flat face with hypertelorism, broad nose, anteverted nares, right-sided choanal atresia, left-sided cleft lip, retrognathia, large low-set and malformed ears, micropenis, bilateral cryptorchidy, severe heart malformations, absence of right adrenal gland cen q21     3879440, 2194394, 1456281 WS, proband [3879440], case 1 [2194394, 1456281] child of 3879440_mother, brother of 3879440_brother Edit
1410 12890154 45, XY, -7/ 46, XY, t(9;22)(q34;q11)/ 46, XY anaplastic anemia, myelodysplastic syndrome pter qter     12890154     Edit
1411 Unpublished_99PB451 46, XY, add(1)(p32), del(5)(q?), inv(7), add(11)(q23), add(16)(p11), add(17)(p11) acute lymphoblastic leukemia pter qter   TCRB 99PB451 data unpublished Edit
1412 8618441_23_1 44, X?, -7, add(7)(q?), add(11)(p?), del(11)(p?), -17, add(21)(q?) acute monoblastic leukemia - M5a pter qter     8618441 23 Mitelman Database, Reference No. 6617 Edit
1413 9415687_proband_2 46, XY, rec(7)dup(7q) inv(7)(p22q22) pat chrondrodysplasia punctata, ocular hypertelorism, atrial septal defect, scoliosis, microretrognathia, low and malformed ears, inguinal hernia pter p22     9415687, 11113903, 11536263 proband monosomy of 7p22-pter & trisomy of 7q22-qter Edit
1414 Unpublished_14010 inv(7) [paracentric inversion] polycystic kidney disease pter qter     14010 data unpublished Edit
1415 11241791_42 45, X, -X, der(6)t(6;13), der(7)t(7;15or19), der(12)t(12;21), del(13), der(14)t(14;17) [1]/45, idem, der(4)t(4;7) [4]/45, idem, der(8)t(8;16) [2] [karyotyped by SKY] B-lineage acute lymphoblastic leukemia pter qter     11241791 UPN 42   Edit
1416 Unpublished_49 4?, XX, dup(7) phenotype not given pter qter     49 data unpublished Edit
1417 7173858_1 45, XX, dup(7)(p21->pter) de novo, t(14;21)(p11;q11) pat developmental delay, hypotonia, left kidney enlargement with focal gromerulosclerosis and malrotation, thymic enlargement, bilateral calcaneovalgus, no speech pter p21     7173858, 2679090, 2692511, 2363431, 9297445, 10494083, 12818527 case 1 (S.M.) [7173858], case 14 [2692511], case 3 [9297445], case 35 [10494083] father had 45,XY,t(11;21)(p11;q11) (Robertsonian translocation) Edit
1418 1863992_proband_1 46, XX, rec(7)dup(7p)inv(7)(p15.1q36) mat hydrocephalus, bilateral talipes equinovarus, bilateral inguinal herniae, severe constipation, intraspinal cyst, frequent sinusitis and otitis media, seizures, severe developmental retardation pter p15.1     1863992, 10494083 proband (III-6) [1863992], case 32 [10494083] duplication of 7p15.1-pter & deletion of 7q36-qter; daughter of 1863992_mother Edit
1419 Unpublished_28_2 46, XX, der(7)(pter->q36::p15->pter)mat holoprosencephaly, sacracoccygeal teratoma pter p15     28 data unpublished Edit
1420 2679090_2 46, XY, dup(7)(p14.2-pter) low-set ears, atrial septal defect, cerebral polymicrgyria pter p14.2     2679090, 8839888 patient 2 [2679090], Ref. 14 [8839888]   Edit
1421 2679090_3 46, XY, dup(7)(p14.2-pter) low-set ears, beaked nose, micrognathia, prominent forehead, bilateral contractures of the wrists and fingers, gena recurvata pter p14.2     2679090, 8839888 patient 3 [2679090], Ref. 14 [8839888]   Edit
1422 2692511 46, XY, dup(7)(p11.2pter) de novo dolichocephaly, hypertelorism, microphthalmos, cataract, microstomia, rectus diastasis, omphalocele, small penis, cryptorchidism, no speech pter p11.2     2692511, 9297445, 10494083 case 5 [9297445], case 7 [10494083]   Edit
1423 9297445 46, XX, dup(7)(p11.2-pter) de novo multiple congenital anomalies, micrognathia, psychomotor retardation pter p11.2     9297445, 10494083 case 8 [10494083]   Edit
1424 Pearson_A319 46, XY, dup(7)(p11-pter) large anterior fontanelle, hypertelorism, downslanting palpebral fissures, high arched palate, micrognathia, lowset ears, congenital heart defect, cryptorchidism, hypospadias, postaxial polydactyly, syndactyly, clinodactyly, absent toenails pter p11       Pearson et al, abstract, A319 Edit
1425 926417 46, XY, r(7) [140]/ 46, XY, dic r(7) [8]/ 45, XY, -7 [6]/ 47, XY, r(7), +r(7) [1]/ 46, XX, dic r(7)x2 [1]/45, XY, -C [5]/ 46, XY [1] mental retardation, developmental delay, speech delay, caf-au-lait spots, clumsy eye movement pter qter     926417, 3150243, 7172483, 2395166, 2189730, 8362903, 10982483 case 3 [8362903, 10982483] mother had some types of structual chromosomal abnormalities: ring formation, reciprocal translocation, pericentric inversion and acentric fragmentaion Edit
1426 8428043 46, XX, r(7) skin lesions, numerous melanocytic nevi, short stature, malignant melanoma pter qter     8428043     Edit
1427 10594874_2 46, XY [293]/ 47, XY, +7 [56]/ 46, XY, r(7) [60]/ 47, XY, +7, r(7)[2] intrauterine growth retardation, short stature, moderate mental retardation, multiple minor anomalies, pigmentation anomalies pter qter     10594874     Edit
1428 7172483 46, XX, r(7) [96]/ 47, XX, r(7), +r(7) [3]/ 46, XX, der(7)r(7) [1] short stature, systemic hypertension, wide-spaced nipples, slightly arched palate, skin lesions associated with cutis marmorata on abdomen and thighs, naevus flammeus on forehead and vertex, multiple pigmented naevi on all parts of the body pter qter     7172483, 3150243, 7172483, 2395166, 2189730, 1415332, 8362903, 10982483 SI [7172483], case 4 [8362903, 10982483]   Edit
1429 2395166 46, XY, r(7)(pter->qter) prenatal onset growth deficiency, bone anomalies, pigmentary or vascular skin changes, ocular and genital anomalies, severe mental retardation, dysarthric speech pter qter     2395166, 8362903, 10982483 case 8 [8362903, 10982483]   Edit
1430 12210300_2 46, XX, t(7;16)(q21;q24) mat, upd(7) mat IUGR, growth retardation, prominent forehead, low-set ears, triangular face, clinodactyly of 5the finger, no mental retardation [suspected of Silver-Russell syndrome] pter qter     12210300, 11483637   mother had same translocation; maternal heterodisomy 7 Edit
1431 10227403_1 47, XX, upd(7) mat, +r(7)(p13q11) pat/ 46, XX, upd(7) mat Russell-Silver syndrome, mental retardation pter qter     10227403, 10789928, 11483637, 16007665 ref. 6 [16007665] partial isodisomy Edit
1432 10564876_RSS-44 46, XY, upd(7) mat Russell-Silver syndrome pter qter     10564876 RSS-44 partial heterodisomy Edit
1433 10564876_RSS-11 46, XX, upd(7) mat Russell-Silver syndrome pter qter     10564876 RSS-11 isodisomy Edit
1434 10789928_5 46, XX, upd(7) mat retarded bone age, hemihypotrophy, triangular face, thin upper lip, clinodactyly, short 5th finger, feeding difficulties pter qter     10789928 patient 5 heterodisomy (meiosis lI) Edit
1435 10789928_6 46, XY, upd(7) mat retarded bone age, hemihypotrophy, psychological retardation, triangular face, high forehead, downturned corners of the mouth, pointed chin, clinodactyly, short 5th finger, forehead sweating pter qter     10789928 patient 6 heterodisomy (meiosis lI)
chorionic villi sampling: 47, XY, +7
Edit
1436 10789928_7 46, XX, upd(7) mat retarded bone age, psychological retardation, triangular face, high forehead, broad mouth, pointed chin, clinodactyly, feeding difficulties, cerebral hemorrhage pter qter     10789928 patient 7 heterodisomy (meiosis l); chorionic villi sampling: 47, XX, +7 Edit
1437 10789928_8 46, XY, upd(7) mat retarded bone age, triangular face, high forehead, broad mouth, downturned corners of the mouth, pointed chin, feeding difficulties pter qter     10789928 patient 8 isodisomy Edit
1438 10789928_9 46, XY, upd(7) mat retarded bone age, hemihypotrophy, psychological retardation, triangular face, high forehead, thin upper lip, downturned corners of the mouth, pointed chin, clinodactyly, forehead sweating pter qter     10789928 patient 9 heterodisomy (meiosis lI) Edit
1439 11829489_1 46, X?, upd(7) mat Russell-Silver Syndrome pter qter     11829489 Pt. 1 isodisomy Edit
1440 11829489_2 46, X?, upd(7) mat Russell-Silver Syndrome pter qter     11829489 Pt. 2 heterodisomy Edit
1441 11829489_3 46, X?, upd(7) mat Russell-Silver Syndrome pter qter     11829489 Pt. 3 heterodisomy Edit
1442 10756351 46, XY, upd(7) mat Russell-Silver syndrome, cystic fibrosis pter qter     10756351, 10789928   isodisomy Edit
1443 1463018 46, XY, upd(7) mat short stature, growth retardation, retarded bone age pter qter     1463018, 10789928 ref. 27 [10789928] heterodisomy (meiosis l); homozygous for COL1A2 mutation Edit
1444 2570528 46, XY, upd(7) mat cystic fibrosis, short stature pter qter     2570528, 10789928 ref. 29 [10789928] isodisomy Edit
1445 2893543 46, XX, upd(7) mat cystic fibrosis, short stature, retarded bone age, hemihypotrophy, growth hormone deficiency pter qter     2893543, 2035541, 10789928 AB (III-1) [2893543], ref. 26 [10789928] isodisomy; mother (possibly), maternal mother, maternal aunt, and brother were heterozygous for CF mutation Edit
1446 8592330 46, XX, upd(7) mat interuterine growth retardation, postnatal growth failure pter qter     8592330, 10789928 ref. 14 [10789928] heterodisomy (meiosis I)?; chorionic villi sampling: 47, XX, +7 Edit
1447 9032641_1 46, XX, upd(7) mat Russell-Silver syndrome pter qter     9032641, 10544228, 10789928, 10874633 proband 1 [9032641, 10789928], case 4 (41) [10544228] both heterodisomy and isodisomy Edit
1448 9032641_2 46, XX, upd(7) mat Russell-Silver syndrome pter qter     9032641, 10874633, 10789928, 10544228 proband 2 [9032641, 10789928], case 2 (13) [10544228] both heterodisomy and isodisomy Edit
1449 9032641_3 46, XX, upd(7) mat Russell-Silver syndrome pter qter     9032641, 10874633, 10789928, 10544228 case in addendum [9032641], case 3 (42) [10789928] both heterodisomy and isodisomy Edit
1450 10874633_4 46, X?, upd(7) mat Russell-Silver syndrome pter pter     10874633, 10789928 patient 4 [10874633] both heterodisomy and isodisomy Edit
1451 10874633_5 46, X?, upd(7) mat Russell-Silver syndrome pter qter     10874633, 10789928 patient 5 [10874633] both heterodisomy and isodisomy Edit
1452 9272165_SR38 46, X?, upd(7) mat IUGR, short stature, relative macrocephaly, triangular face, klinodactyly V, squeaky voice, muscular hypotrophy, (psychomotor retardation) pter qter     9272165, 10789928 SR38 partial isodisomy/partial heterodisomy Edit
1453 9272165_SR39 46, X?, upd(7) mat IUGR, short stature, relative macrocephaly, triangular face, klinodactyly V, psychomotor retardation, muscular hypotrophy pter qter     9272165, 10789928 SR39 complete heterodisomy Edit
1454 9272165_SR8 46, XX, upd(7) mat IUGR, short stature, asymmetry, relative macrocephaly, irregular teeth, ear anomalies, clinodactyly V, brachydactyly V pter qter     9272165, 10789928 SR8 complete isodisomy Edit
1455 9526615_1 46, XY, upd(7) mat Silver-Russell syndrome pter qter     9526615, 10789928 1 isodisomy Edit
1456 9526615_2 46, X?, upd(7) mat Silver-Russell syndrome pter qter     9526615, 10789928 2 heterodisomy (meiosis ll) Edit
1457 10818216_72 46, XX, upd(7) mat Russell-Silver syndrome pter qter     10818216, 10789928 SR 72 isodisomy Edit
1458 11718568 46, XY, upd(7) mat Russell-Silver syndrome pter qter     11718568   placental cells mosaic of isodisomy 7 and trisomy 7 Edit
1459 10818216_74 46, XX, upd(7) mat [possible] Russell-Silver syndrome pter qter     10818216, 10789928 SR 74 possible mUPD - paternal DNA was not available Edit
1460 10818216_CPM7 46, XX, upd(7) mat/ 47, XX, +7 Russell-Silver syndrome pter qter     10818216, 10789928 CPM 7 isodisomy Edit
1461 7633407_1 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 1 isodisomy Edit
1462 7633407_2 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 2 heterodisomy Edit
1463 7633407_3 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 3 isodisomy Edit
1464 7633407_4 46, X?, upd(7) mat Russell-Silver syndrome pter qter     7633407, 10789928 4 isodisomy Edit
1465 11370636_I 46, XY, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 I [11370636, 11875139], patient 7 [17033973] isodisomy Edit
1466 11370636_II 46, XY, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 II [11370636, 11875139], patient 8 [17033973] both heterodisomy and isodisomy Edit
1467 11370636_III 46, XX, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 III [11370636, 11875139], patient 9 [17033973] both heterodisomy and isodisomy Edit
1468 11370636_IV 46, XX, upd(7) mat Russell-Silver syndrome, developmental verbal dyspraxia pter qter     11370636, 11875139, 17033973 IV [11370636, 11875139], patient 10 [17033973] both heterodisomy and isodisomy Edit
1469 11131354 46, XY, upd(7) mat prenatal and postnatal growth retardation, receptive/expressive language delay, preaxial polydactyly type 1 of the left thumb, disproportionally large head pter qter     11131354   isodisomy Edit
1470 11477611_1 46, XY, i(7)(p10), i(7)(q10) postnatal growth retardation, normal psychomotor development, triangular-shaped face, small nose, narrow and high-arched palate, protruding lower lip, pointed chin, feeding difficulties pter p10     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
1471 7942853 46, XX, upd(7) pat congenital chloride diarrhea, distended abdomen, watery diarrhea, marked hyperbilirubinemia, mild hearing loss pter qter     7942853, 11352560, LGL4588 [7942853, 11352560], patient 16 [] isodisomy Edit
1472 9585585 46, XY, upd(7) pat cystic fibrosis, primary ciliary dyskinesia with dextrocardia and situs inversus totalis, growth retarded pter qter     9585585, 12142464 CC isodisomy; mutations in CFTR (F508del) and DNAh11 Edit
1473 7662983_1327_1 47, XX, t(3;22)(p21;p11), -7, del(7)(q22), +12, -13, add(14)(q24), add(14)(q32), -21, +2mar [cp13]/ 46, XX [7] chronic lymphocytic leukemia pter qter     7662983 1327 Mitelman Database, Reference No. 6135 Edit
1474 8616020_42_2 46, XX, del(7)(q31q33) [10]/ 46, XX, -7, +r [4]/ 46, XX [21] acute myeloblastic leukemia - M2 pter qter     8616020 42 Mitelman Database, Reference No. 6510 Edit
1475 2880296_1 45, XY, -7 [19] / 45, XY, -7, del(20)(q11) [2] refractory anemia pter qter     2880296, 2562922 pt. 1 [2880296], 6 [2562922] Mitelman Database, Reference No. 1872 Edit
1476 2880296_2 45, XX, -7, del(5)(q12q33) [12] refractory anemia with excess of blasts pter qter     2880296, 2562922 pt. 2 [2880296], 8 [2562922] Mitelman Database, Reference No. 1872 Edit
1477 2880296_3 45, XX, -7 [17] refractory anemia with excess of blasts pter qter     2880296, 2562922 pt. 3 [2880296], 9 [2562922] Mitelman Database, Reference No. 1872 Edit
1478 Unpublished_01KM2892 49-51, XX, -5, -7, del(12)(p11p13), +19, +4-6mar [5]/ 50-52, XX, -5, -7, +8, del(12)(p11p13), +19, +4-6mar [7] acute myeloid leukemia pter qter     01KM2892 data unpublished Edit
1479 Unpublished_52 47, XY, +8 [13] / 45, XY, -7 [4] / 46, XY [5] persistent leukopenia and macrocytosis pter qter     52 father of Unpublished_53; brother, sister and father died of a probable leukemic process; sample never received; data unpublished Edit
1480 Unpublished_53 45, XY, -7[3]/ 46, XY [27] leukopenia pter qter     53 son of Unpublished_52; data unpublished Edit
1481 264599_1 45, XY, -7 phenotypically normal, preleukemia pter qter     264599 1   Edit
1482 264599_2 46, XY/ 45, XY, -7, del(20)(q11) henotypically normal, preleukemia; acute leukemia later developed pter qter     264599 2   Edit
1483 264599_3 45, XX, -7 defective chemotaxis, acute myeloid leukemia preceded by a preleukemic phase pter qter     264599 3   Edit
1484 264599_4 45, XX, -7, t(9;22) defective chemotaxis, acute myeloid leukemia pter qter     264599 4   Edit
1485 264599_5 45, XX, -7 defective chemotaxis, subacute myelomonocytic leukemia pter qter     264599 5   Edit
1486 1347709_2097 45, X?, -7 therapy-related myelodysplastic syndrome or therapy-related acute myeloid leukemia pter qter     1347709 2097   Edit
1487 1347709_2102 45, X?, -7 therapy-related myelodysplastic syndrome or therapy-related acute myeloid leukemia pter qter     1347709 2102   Edit
1488 1347709_3050 45, X?, -7 acute myeloblastic leukemia - M1 pter qter     1347709 3050   Edit
1489 1347709_5059 45, X?, -7 myelodysplastic syndrome pter qter     1347709 5059   Edit
1490 1581212_1 45, XY, -7 refractory anemia with excess of blasts pter qter     1581212 1 Mitelman Database, Reference No. 4291 Edit
1491 1581212_2 46, XX, add(3)(p?), -7, add(21)(p?), i(21)(q10) refractory anemia with excess of blasts -> acute myeloid leukemia pter qter     1581212 2 Mitelman Database, Reference No. 4291 Edit
1492 1581212_3 45, XY, -7 refractory anemia, hypogammaglobulinemia pter qter     1581212 3 Mitelman Database, Reference No. 4291 Edit
1493 1581212_4 45, XY, -7 refractory anemia with excess of blasts pter qter     1581212 4 Mitelman Database, Reference No. 4291 Edit
1494 1581212_5 45, XY, -7 refractory anemia pter qter     1581212 5 Mitelman Database, Reference No. 4291 Edit
1495 1581212_6 45, XY, -7 monosomy 7 syndrome pter qter     1581212 6 Mitelman Database, Reference No. 4291 Edit
1496 1581212_7 47, XX, -7, +21, +mar acute myeloblastic leukemia - M0 pter qter     1581212 7 Mitelman Database, Reference No. 4291 Edit
1497 1581212_9 45, XY, -7 biphenotypic leukemia pter qter     1581212 9 Mitelman Database, Reference No. 4291 Edit
1498 2378982_18 45, XX, -7, t(9;22)(q34;q11) acute lymphoblastic leukemia pter qter     2378982, 1995090 18 [2378982], 12 [1995090] Mitelman Database, Referece No. 3580 Edit
1499 1995090_5 42, XY, -3, -7, -9, t(9;22)(q34;q11), -12/ 41, idem, -14 acute lymphoblastic leukemia - L1 pter qter     1995090 5   Edit
1500 1995090_8 46, XY, t(9;22)(q34;q11)/ 45, idem, -7 acute lymphoblastic leukemia - L2 pter qter     1995090 8   Edit
1501 2562922_5 45, XY, -7 [4]/ 46, XY [7] refractory anemia with excess of blasts pter qter     2562922 5 Mitelman Database, Reference No. 2768 Edit
1502 2562922_7 45, XX, -7 [8]/ 44, idem, -14 [2]/ 46, XX [4] acute myeloblastic leukemia - M2 pter qter     2562922 7 Mitelman Database, Reference No. 2768 Edit
1503 2562922_10 45, XY, -7 [6]/ 46, XY [3] chronic myelomonocytic leukemia pter qter     2562922 10 Mitelman Database, Reference No. 2768 Edit
1504 7082837_1 45, XX, -7 secondary preleukemia, aleukemic, hodgkin's disease pter qter     7082837 1   Edit
1505 7082837_2 45, XY,- 7 myelodysplastic syndrome pter qter     7082837 2 Mitelman Database, Reference No. 485 Edit
1506 7082837_3 45, XX, -7 secondary preleukemia, aleukemic pter qter     7082837 3   Edit
1507 7082837_4 45, XX, -7 myelodysplastic syndrome pter qter     7082837 4 Mitelman Database, Reference No. 485 Edit
1508 7082837_5 45, XX, -7 secondary preleukemia, aleukemic, hodgkin's disease pter qter     7082837 5   Edit
1509 7082837_6 45, XX, -7 myelodysplastic syndrome pter qter     7082837 6 Mitelman Database, Reference No. 485 Edit
1510 7082837_7 45, XY,- 7 myelodysplastic syndrome pter qter     7082837 7 Mitelman Database, Reference No. 485 Edit
1511 7082837_8 44, XY, -5, -6, -7, -8, add(17), +2mar myelodysplastic syndrome pter qter     7082837 8 Mitelman Database, Reference No. 485 Edit
1512 7082837_9 44, XY, -7, -17, -20, -22, +2mar acute myeloid leukemia pter qter     7082837 9 Mitelman Database, Reference No. 485 Edit
1513 7500652_197 45, X?, -7, del(12)(p11p12) [19] cute myelomonocytic leukemia - M4 (de novo) pter qter     7500652 197 Mitelman Database, Reference No. 6281 Edit
1514 7500652_894 45, X?, -7 [14] acute myeloblastic leukemia - M2 (de novo) pter qter     7500652 894 Mitelman Database, Reference No. 6281 Edit
1515 7500652_908 45, X?, -7 [20] acute myeloid leukemia (de novo) pter qter     7500652 908 Mitelman Database, Reference No. 6281 Edit
1516 7500652_953 45, XY, -7, [14]/46, XY [5] therapy-retated chronic myelomonocytic leukemia pter qter     7500652 953 Mitelman Database, Reference No. 6281 Edit
1517 7500652_1107 4?, X?, -7, complex karyotype [8]/46, XX [1] myelodysplactic syndrome, acute myeloid leukemia pter qter     7500652 1107 Mitelman Database, Reference No. 6281 Edit
1518 7500652_1109 45, X?, -7 [11] refractory anemia pter qter     7500652 1109 Mitelman Database, Reference No. 6281 Edit
1519 7500652_1120 46, X?, inv(16)(p13q13) [13]/4?, idem, -3, -5, der(5), -7, -9, der(17)(p13) [2] myelodysplactic syndrome, acute myeloid leukemia pter qter     7500652 1120   Edit
1520 7500652_1121 43, XY, der(1)(p36), del(5)(q13q23), -7, -17, -17 [4]/ 46, XY [6] myelodysplactic syndrome, acute myeloid leukemia pter qter     7500652 1121 Mitelman Database, Reference No. 6281 Edit
1521 7500652_1248 4?, X?, -7, complex karyotype including loss of 17p [15] myelodysplactic syndrome, acute myeloid leukemia pter qter     7500652 1248 Mitelman Database, Reference No. 6281 Edit
1522 8241509_14 43, XY, del(3)(p12p25), add(5)(q2?2), -7, -12, der(16)t(16;17)(q2?2;q21), -17, del(20)(q11q13), del(21)(q21q22) [11] therapy-related acute myeloid leukemia pter qter     8241509 14 Mitelman Database, Reference No. 5179 Edit
1523 7703482_35 45, XY, -7 monosomy 7 syndrome, refractory anemia with excess of blasts pter qter     7703482 35 Mitelman Database, Referece No. 5956 Edit
1524 7703482_36 45, XY, -7 monosomy 7 syndrome, refractory anemia with excess of blasts pter qter     7703482 36 Mitelman Database, Referece No. 5956 Edit
1525 7703482_37 45, XY, -7 monosomy 7 syndrome, refractory anemia with excess of blasts pter qter     7703482 37 Mitelman Database, Referece No. 5956 Edit
1526 7703482_38 45, XY, -7 monosomy 7 syndrome, refractory anemia with excess of blasts pter qter     7703482 38 Mitelman Database, Referece No. 5956 Edit
1527 7703482_39 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 39 Mitelman Database, Referece No. 5956 Edit
1528 7703482_40 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 40 Mitelman Database, Referece No. 5956 Edit
1529 7703482_41 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 41 Mitelman Database, Referece No. 5956 Edit
1530 7703482_42 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 42 Mitelman Database, Referece No. 5956 Edit
1531 7703482_43 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 43 Mitelman Database, Referece No. 5956 Edit
1532 7703482_44 45, XX, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 44 Mitelman Database, Referece No. 5956 Edit
1533 7703482_45 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 45 Mitelman Database, Referece No. 5956 Edit
1534 7703482_46 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 46 Mitelman Database, Referece No. 5956 Edit
1535 7703482_47 45, XY, -7 monosomy 7 syndrome, chronic myelomonocytic leukemia pter qter     7703482 47 Mitelman Database, Referece No. 5956 Edit
1536 8299767_3 45, XX, -7 paroxysmal nocturnal hemoglobinuria [30 yrs before], myelodysplastic syndrome [2 yrs before], acute myeloid leukemia pter qter     8299767 3   Edit
1537 8299767_5 45, XY, -7 chronic myelomonocytic leukemia pter qter     8299767 5   Edit
1538 8299767_6 45, XY, -7 Hodgkin disease [9 yrs before], myelodysplastic syndrome pter qter     8299767 6   Edit
1539 8299767_7 45, XY, -7 refractory anemia with excess of blasts pter qter     8299767 7   Edit
1540 Unpublished_19009 45, XY, -7 [35%]/ 46, XY [65%]
(Ph1+ =8%)
chronic myeloid leukemia pter qter     19009 data unpublished Edit
1541 8618441_21 46, XX, dic(5;17)(q11;p11), -7, der(10)t(10;19)(p11;q11), -19, +2mar myelodysplastic syndrome -> acute myeloid leukemia pter qter     8618441 21 Mitelman Database, Reference No. 6617 Edit
1542 7828151_8_2 46, XY, add(4)(p15), add(4)(q?35), -7, del(7)(q11.1q22), del(15)(q?25), add(19)(?p or ?9), +add(21)(q22) acute erythroleukemia leukemia - M6 pter qter     7828151 8 Mitelman Database, Reference No. 5644 Edit
1543 1868912_M3_1 44, XX, -5, -7, add(19)(q?) [19]/ 45, XX, -5, del(7)(q21), add(19)(q?) [7] multiple myeloma pter qter     1868912 M3   Edit
1544 9078299_10_1 46, X, -Y, +3, ins(5;?)(q13;?), -7, t(8;9)(q21;p22), +mar [5]/ 46, idem, del(7)(q21q31) [2]/ 46, XY [22] splenic lymphoma with villous lymphocytes pter qter     9078299 10 Mitelman Database, Reference No. 6796 Edit
1545 1868912_M17 45, XX, -7 [3]/ 46, XX [22] breast cancer pter qter     1868912 M17   Edit
1546 1868912_M23 45, XY, del(1)(q42), -7, add(14)(q?), add(16)(q?) [23] bladder cancer pter qter     1868912 M23   Edit
1547 1868912_M24 45, XY, -7 [15]/ 46, XY [11] polycythemia vera pter qter     1868912 M24   Edit
1548 1868912_M25 47, X, -X, -5, -7, +8, +9, -15, +19, -20, +4mar [9]/ 46,XX [17] breast cancer pter qter     1868912 M25   Edit
1549 1868912_M35 45, XY, -7 [25] non-Hodgkins lymphoma pter qter     1868912 M35   Edit
1550 1868912_M36_1 45, XY, del(5)(q13q31), -7, ?t(7;20)(p11;q13), t(22;?)(p11;?) [4]/ 45, idem, del(3)(p22), del(6)(q23) [2]/ 45, idem, del(4)(q25), -12, +r [2]/ 46, XY [6] testicular cancer pter qter     1868912 M36   Edit
1551 9519789_1 45, XY, 1p+, 5q-, -7 [24]/46, XY [1] chronic myelomonocytic leukemia pter qter     9519789 1   Edit
1552 9519789_2 45, XY, -7 [21] chronic myelomonocytic leukemia pter qter     9519789 2   Edit
1553 9519789_3 41-44, XX, -5, -7, -12, -18 [25] acute myeloid leukemia, relapse pter qter     9519789 3   Edit
1554 8637218_197 45, X?, -7 acute myelomonocytic leukemia - M4 pter qter     8637218 197 Mitelman Database, Reference No. 6560 Edit
1555 8616020_43_3 47, XX, +8 [3]/47, idem, der(7)inv(7)(p11q31)del(7)(q31q33) [2]/ 43, X, -X, -6, -7, -19, +mar [3]/ 46, XX [2] myelodysplastic syndrome, acute myeloblastic leukemia - M2 pter qter     8616020 43 Mitelman Database, Reference No. 6510 Edit
1556 7828151_28_1 45, XY, del(1)(q31), add(4)(q?31), -7, del(7)(q22q35), -12 +add(14)(q32), del(17)(p?13), add(21)(p13) acute lymphoblastic leukemia pter qter     7828151 28 Mitelman Database, Reference No. 5644 Edit
1557 11417483_17 62, XXX, -3, -4, del(5)(q14q35)x2, der(6)t(1;6)(q21;q14), -7, r(11), -12, -15, -17, -18, der(20)t(1;20)(q21;q12), +21 [7]/ 46, XX [1] myelodysplastic syndrome pter qter     11417483 17   Edit
1558 11417483_22 46,XY, del(5)(q21q33), -7, +mar[4]/45,X Y, t(3;16)(p13;q22), del(5)(q21q33), -7 [11]/46,XY [6] myelodysplastic syndrome pter qter     11417483 22   Edit
1559 11417483_24 44, XY, t(2,6)(q37;q21), del(5)(q15q35), -7, del(9)(q21), -17, add(17)(p13)[13]/4 6, XY [2] therapy-related myelodysplastic syndrome pter qter     11417483 24   Edit
1560 11417483_25 45, XX, der(3)t(3;?)(q11;?), del(5)(q21q34), -7, add(11)(q25), del(13)(q13)[30] therapy-related myelodysplastic syndrome pter qter     11417483 25   Edit
1561 11417483_26 45, XX, -3, -5, -7, -18, +3mar [21]/44, XX, -3, -5, -17, -18, +2mar [4]/46, XX [1] therapy-related myelodysplastic syndrome pter qter     11417483 26   Edit
1562 11417483_27 46, XX, r(4), del(5)(q12q34), -7, -15, add(17)(p13), -18, add(21)(q22), +3mar [18]/45, XX, -4, del(5)(q12q34), -7, -15, add(17)(p13), -18, add(21)(q22), +3mar [7]/46, XX [5] myelodysplastic syndrome pter qter     11417483 27   Edit
1563 11417483_29 45, XY, der(5)t(5;?)(q11;?), -7, del(12)(p13), r(13) [11]/44, XY, der(5)t(5;?)(q11;?), der(6)t(6;12)(p25;q12), -7, -12, r(13)[5]/46, XY [6] myelodysplastic syndrome pter qter     11417483 29   Edit
1564 12034527_1 46, XY, der(1)t(1;1)(p36;q32), -7, +21c [17]/ 46, idem, del(9)(p22)[10] [before therapy]
46, XY, der(1)t(1;1), -7, der(7)t(7;7)(p22;q10), del(9), +21c [13]/47, XY, +21c [2] [at recurrence]
acute monoblastic leukemia - M5, Down syndrome pter qter     12034527   Mitelman Database, Reference No. 9530 Edit
1565 1581212_10_1 46, XX, del(5)(q?), -7, add(7)(q?), +r biphenotypic leukemia pter qter     1581212 10 Mitelman Database, Reference No. 4291 Edit
1566 11745275_21_1 4?, XX, -1q32-qter, -2p11.2-pter, -2q21-q24, +3p21-pter, -3q12-qter, -6p21.3-q23. -7p11.2-pter, +7q11.2-q31, -8p11.2-qter, -9p, -10pter-q21, -13q, -16, +17cen-p12, -18q12-qter, -21q, Xp11.4-qter breast carcinoma pter p11.2     11745275 21 karyotype based on CGH Edit
1567 Unpublished_00PB1515 46, XX, del(1)(p?), del(3)(q?), del(5)(q?), add(6)(p?), del(7)(q?), -8, -9, add(10)(p?), add(14)(q?), +r, +mar [10] acute myeloid leukemia cen qter D7S734/ D7S849   00PB1515 data unpublished Edit
1568 Unpublished_01KM888 46, XY, add(20)(p13)[10] [detected by FISH: del(7)(q?), add(11)(q?), inv(16)] acute myeloid leukemia cen qter D7S787/ D7S2544   01KM888 data unpublished Edit
1569 Unpublished_97KM826 complex karyotype: del(5)(q?), del(7)(q?), add(8)(q?), add(11)(q?), del(12)(p?), del(20)(q?), inc acute myeloid leukemia cen qter VGF/ D7S2536   97KM826 data unpublished Edit
1570 Unpublished_98KM604/98PB605 44, XX, -5, -12/ 44, idem, del(7)(q?) acute myeloid leukemia cen qter D7S1667/ D7S2511   98KM604/98PB605 data unpublished Edit
1571 8299767_1 4?, XY, del(7)(q?) Hodgkin disease: -9 yrs; acute myeloid leukemia: -1 month cen qter     8299767 1   Edit
1572 8299767_2 46, XY, del(7)(q?) myelodysplastic syndrome (refractory anemia): -6 months cen qter     8299767 2   Edit
1573 8299767_4 46, XX, del(7)(q?) polycythemia vera (-15 yrs); myelodysplastic syndrome (refractory anemia with excess of blasts, -2 yrs) cen qter     8299767 4   Edit
1574 8299767_8 46, XY, del(7)(q?) Hodgkin disease (-11 yrs); acute myeloid leukemia (-3 months) cen qter     8299767 8   Edit
1575 11745275_9 4?, XX, -1p21-p31, -3cen-p21, +4q, -6p21.3-pter, +7p15-pter, +8q, -9p21-pter, -10p, -11, -12p11.2-pter, -13q, -14q24-qter, +15q24-qter, -20p ovarian carcinoma pter p15     11745275 9 karyotype based on CGH Edit
1576 Shimizu_A413 47, XX, +7p dysmorphic face, congenital heart defects, arched eyebrows, hypertelorism, low-set and malformed ears, broad nose, micrognathia, highly arched palate, short and webbed neck, hip joint dislocation and overlapped fingers pter p10       Shimizu et al., abstract, A413 Edit
1577 11745275_7 4?, XX, -1p, +2p11.2-p12, -6q15-q22, +7p, -9p21-pter, -10, -11, -12q22-q23, -13q14-q32, +14q, -18q ovarian carcinoma pter p10     11745275 7   Edit
1578 11745275_5 4?, XX, -1p13-p31, -2p23-pter, -3cen-p14, -6q12-qter, +7pter-q21, -10p11.2-q22, +12p, +12cen-q21/+ +12q13-q21, -13q22--qter, +14q/++14q31-qter, +15q22-qter, -18cen-q2 breast carcinoma pter q21     11745275 5 karyotype based on CGH Edit
1579 11745275_25 4?, XX, +1q21-qter, +2q21-qter, +3pter-q22, +5, +7pter-q22/+ +7p14-pter, +8, +14q, +15q, -Xq13-qter Hodgkin disease pter q22     11745275 25 karyotype based on CGH Edit
1580 11745275_12 4?, XY, +5p, +7pter-q32, +10q24-q26, -13q, +15q astrocytoma G2-3 pter q32     11745275 12 karyotype based on CGH Edit
1581 6733951 47, XX, +7 [12%]/ 46, XX [88%] Potter syndrome, pulmonary hypoplasia, renal agenesis, died 14 hrs after birth pter qter     6733951, 10594874, 12124684, 16092121     Edit
1582 8411076 47, XY, +7 [9] [amniotic fluid, 1st culture]
46, XY [30] [amniotic fluid, 2nd culture]
46, XY [60] [blood, aged 7]
47, XY, +7 [23]/ 46, XY [13] [skin, aged 8]
hypomelanosis of Ito, mild developmental delay, facial asymmetry, cleft uvula, enamel dysplasia pter qter     8411076, 9110367, 10594874, 16092121, 12124684, 16302164 VII-4 [9110367]   Edit
1583 10594874_1 46, XY [293]/ 47, XY, +7 [56]/ 46, XY, r(7) [60]/ 47, XY, +7, r(7)[2] intrauterine growth retardation, short stature, moderate mental retardation, multiple minor anomalies, pigmentation anomalies pter qter     10594874     Edit
1584 9447826_4_2 45, XX, -5, del(7)(q32), del(12)(p12)/ 55, XX, +3, +5, +7, +9, +11, +15, +15, +19, +21 refractoy anemia with excess of blasts pter qter     9447826 4 Mitelman Database, Reference No. 7281 Edit
1585 8616020_44_3 49, X, t(X;15)(p11;q11), -5, +der(7)del(7)(p11)del(7)(q31q33), -11, del(11)(q22q23), add(14)(p13), -15, del(16)(q21), del(17)(p11), -21, +5r [cp17] acute myelomonocytic leukemia - M4, trilineage myelodysplasia pter qter     8616020 44 Mitelman Database, Reference No. 6510 Edit
1586 1868912_M13 47-48, X, -X, -5, +7, +7, -19, t(1;?)(p12;?), t(19;?)(p13;?), +r, +3mar [12]/ 46, XX [7] uterine carcinoma pter qter     1868912 M13   Edit
1587 7390476 47, XX, +7 de novo Potter syndrome, hypertelorism, depressed nasal bridge, low-set ears, micrognathia, short neck, narrow pelvis, bilateral clubfoot, hypotonicity, anal imperforation, abnormal external genitals, no opening to vagina, vertebral abnormalities, polycystic and hydronephrotic kidney, hypoplastic lungs pter qter     7390476, 6733951, 10594874, 12407716   twin brother had normal karyotype Edit
1588 10400416_1458 54, XX, del(3)(q13q21), +6, +7, +8, t(11;17)(q23;q23), +14, +19, +19, +21, +21 acute megakaryoblastic leukemia - M7 pter qter     10400416 1458 Mitelman Database, Reference No. 8079 Edit
1589 10594873 47, XY, +7 [28]/46, XY [7] [skin] linear and whorled nevoid hypermelanosis, hypomelanosis of Ito, Dandy-Walker variant, developmental delay, hypotonia, pyschomotor delay, heart defect (PDA & VSD), asymmetric ptosis, short downslanting palpebral fissures, sparse eyelashes pter qter     10594873, 10594874     Edit
1590 11745186_4 47, XX, +7 [2]/46, XX [14] papillary thyroid carcinoma pter qter     11745186 4   Edit
1591 11745186_91_1 50-56, XX, +X, +3, +5, +7, +7, +der(7)t(7;12)(q36;q13), +9, +12, +14, +17, +20 [cp15] papillary thyroid carcinoma pter qter     11745186 91 Mitelman Database, Reference No. 9480 Edit
1592 11745186_49 41-46, X, -X, t(1;9)(p34;q21), del(5)(q31), +7, der(8)t(8;14)(p12-21;q11.2), -9, -13, der(13)t(10;13)(q11.2;p11), der(14;17)(p10;q10), add(21)(q22), +add(22)(q13), +mar, dmin [cp9] papillary thyroid carcinoma pter qter     11745186 49 Mitelman Database, Reference No. 9480 Edit
1593 11745186_79 46-49, XX, +7 [cp3]/ 46, XX [10) papillary thyroid carcinoma pter qter     11745186 79 Mitelman Database, Reference No. 9480 Edit
1594 11745186_82 43-47, X, -Y [6], +7 [8] [cp8]/ 46, XY [12] papillary thyroid carcinoma pter qter     11745186 82 Mitelman Database, Reference No. 9480 Edit
1595 11745186_93 47, XX, +5 [12]/ 49, idem, +9 [4]/ 47, XX, +7 [5]/ 46, XX, der(3)t(3;11)(p13;q13) [2], -11 [2], +mar 1 [1], +mar 2 [1] [cp2]/ 46, XX [13] papillary thyroid carcinoma pter qter     11745186 93 Mitelman Database, Reference No. 9480 Edit
1596 11745275_23 4?, XY, +7, +8, +12 lymphoma pter qter     11745275 23   Edit
1597 9731534_1 46, X?, +7 hereditary papillary renal carcinoma pter qter     9731534 1 MET mutation on duplicated chromosome Edit
1598 9731534_2 46, X?, +7 hereditary papillary renal carcinoma pter qter     9731534 2 MET mutation on duplicated chromosome Edit
1599 11745275_26 4?, XY, +1q31-qter, +2/++2q33-qter, -3, +4pter-q13, +5p/++5p14-p15.2, -5q13-q15, +6q, +7, -9p, +10p11.2-pter, +10q24-qter, +11pter-q13, -11q22-qter, +12p11.2-pter, -13q21-qter, +15q211-qter, +20q, +21q/++21q22, +22q/++22q13, +Xq13-qter lymphoma pter qter     11745275 26   Edit
1600 Unpublished_54 46, XY, mar(7) cognitive delay, emotional difficulties, mild dysmorphic features, multiple pigmented nevi pter qter     54 data unpublished Edit
1601 7341641 47, XX, +7/ 46, XX [skin-right forearm]
46, XX [blood, skin-left forearm]
plagiocephaly, abnormalities of left ear, facial asymmetry, abnormalities of head hair pattern, cleft lip and palate, bifid tongue, left torticollis, hemivertebrae, left radial hypoplasia and absent thumb, left inguinal hernia, patient ductus arteriosus, narrowing of the thoracic aorta, and hypoplastic right pulmonary artery pter qter     7341641, 10594874, 12124684, 16092121     Edit
1602 11745275_11 4?, XX, -6p12-q16, +7cen-q22 breast carcinoma cen q22     11745275 11 karyotype based on CGH Edit
1603 11745275_13 4?, XX, -2pter-p23, -2q33-qter, +4q31.1-q33, +7cen-q31, -11q23-qter, -18q12-qter breast carcinoma cen q31     11745275 13 karyotype based on CGH Edit
1604 7664288_19 LOH(7) prostate cancer         7664288 19   Edit
1605 7664288_33 LOH(7) prostate cancer         7664288 33   Edit
1606 7664288_51 LOH(7) prostate cancer         7664288 51   Edit
1607 7664288_8 LOH(7) prostate cancer         7664288 8   Edit
1608 7664288_12 LOH(7) prostate cancer         7664288 12   Edit
1609 7664288_46 LOH(7) prostate cancer         7664288 46   Edit
1610 7664288_6 LOH(7) prostate cancer   q31.3 D7S501/ D7S486 D7S522/ D7S480 7664288 6   Edit
1611 10329610_S5 LOH(7) splenic marginal B-cell lymphoma     D7S471/ D7S2847 D7S487/ D7S514 10329610, 11830479 S5 [10329610], 5 [11830479]   Edit
1612 7664288_26 LOH(7) prostate cancer pter p11.1     7664288 26   Edit
1613 10646884_WT30 LOH(7) Wilms Tumour       D7S691/ D7S554 10646884 WT30   Edit
1614 7954327_WT40 46, XX [LOH(7)] Wilms Tumour       D7S3023/ D7S691 7954327, 10646884 WT40   Edit
1615 10646884_WT42 LOH(7) Wilms Tumour       D7S3023/ D7S554 10646884 WT42   Edit
1616 8541548_1 45, XY, -7, del(6)(q21)/ 46, XY/ congenital neutropenia, myelodysplactic syndrome pter qter     8541548 1 Mitelman Database, Reference No. 6208 Edit
1617 8541548_2 46, XY, -7, +11/ 46, XY congenital agranulocytosis (Kostmann's syndrome), acute myeloid leukemia pter qter     8541548 2 Mitelman Database, Reference No. 6208 Edit
1618 8541548_3 46, XY, -7, +21/ 46, XY congenital neutropenia, myelodysplactic syndrome pter qter     8541548 3 Mitelman Database, Reference No. 6208 Edit
1619 8541548_4 45, XY, -7 congenital agranulocytosis (Kostmann's syndrome), myelodysplactic syndrome pter qter     8541548 4 Mitelman Database, Reference No. 6208 Edit
1620 8541548_5 46, XY, -7, +21/ 45, XY, -7, i(17)(q10)/ 46, XY congenital neutropenia, myelodysplactic syndrome, acute myeloid leukemia pter qter     8541548 5 Mitelman Database, Reference No. 6208 Edit
1621 8541548_6 45, XX, -7/46, XX congenital agranulocytosis (Kostmann's syndrome), acute myeloid leukemia pter qter     8541548 6 Mitelman Database, Reference No. 6208 Edit
1622 8541548_7 46, XX, -7, +del(20)(q?) congenital agranulocytosis (Kostmann's syndrome), acute myeloid leukemia pter qter     8541548 7 Mitelman Database, Reference No. 6208 Edit
1623 8541548_11 46, XY, -7, +del(20)(q?)/ 46, XY congenital agranulocytosis (Kostmann's syndrome), myelodysplactic syndrome pter qter     8541548 11 Mitelman Database, Reference No. 6208 Edit
1624 8541548_14 45, XX, t(6;13)(q21;q32), -7/ 46, XX Shwachman-Diamond syndrome, myelodysplastic syndrome pter qter     8541548, 9074418, 9766504, 12472589 14 [8541548], UPN 2279 [9074418], 13 [9766504] Mitelman Database, Reference No. 6208 Edit
1625 9074418_UPN1225 45, XX, -7 [20] chronic myelomonocytic leukaemia (5% myeloblasts, 16% monocytes and precursors), hypercellular marrow pter qter     9074418 UPN 1225   Edit
1626 9074418_UPN2275 45, XX, -7 [18]/ 46, XX [2] refractory anemia with excess of blasts pter qter     9074418 UPN 2275   Edit
1627 9603415_1 45, XY, -7 Shwachman-Diamond syndrome, myelodysplastic syndrome, short stature, growth hormone deficiency, recurrent diarrhea, loss of mineralization of distal femora pter qter     9603415, 9766504, 12472589 case 1 [9603415], 16 [9766504],   Edit
1628 9603415_2_2 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency, metaphyseal chondroplasia developed marrow hypoplasia pter qter     9603415, 9766504, 12472589, 15474150, 16382447 case 2 [9603415], 15 [9766504], 3 [16382447]   Edit
1629 10646884_WT59 46, XY, add(1)(q1), add(3)(p13), -7, -16, +mar, +mar Wilms' Tumour pter qter     10646884 WT59   Edit
1630 8136270_31 35-46, XY, -1, del(1)(q11), -2, -4, -5, add(5)(p?), del(6)(q16), -7, -8, t(11;14)(q13;q32), -14, -18, -19, +3mar [cp12]/ 40-46, XY, -1, -2, -4, -5, del(6), -11, +3mar [cp8] splenic marginal zone B-cell lymphoma pter qter     8136270 31 Mitelman Database, Reference No. 5404 Edit
1631 Unpublished_57 4?, X?, ins(5;7)(?;?) agenesis of corpus callosum, VSD, rotatory scoliosis, radioulnar synostosis, cervical rib, huge inguinal hernias, small phallus, unusual pigmented retinal epithelium, moderately neurologically impaired pter qter     57 data unpublished Edit
1632 12080476_32 LOH(7) primary head and neck squamous cell carcinoma pter qter     12080476 32   Edit
1633 9892108_2 46, XX [LOH(7)] invasive epithelial ovarian carcinoma pter qter     9892108 2   Edit
1634 2158398_21 46, XY, -6, -7, -8, -14, -17, -18, der(1)(p1pter->p34::p31->q41::?), der(3)t(3;?)(q22;?), der(5)t(5;?)(q33;?), del(7)(q22), der(11)t(11;?)(p11;?), der(12)t(8;12)(q13;q15), t(15q;?), der(16)t(16;?)(p13;?), der(19)t(12;19)(q15;p13), +der(19)t(17;19)(q21;q13), +der(20)t(7;20)(q11;q23), +4mar Wilms tumor pter qter     2158398 21   Edit
1635 6944153_1 45, XY, -7 [80%]/46, XY [20%] acute myeloblastic leukemia - M1 pter qter     6944153 1 Mitelman Database, Reference No. 616 Edit
1636 6944153_2 45, XY, -7 acute myeloblastic leukemia - M1 pter qter     6944153 2 Mitelman Database, Reference No. 616 Edit
1637 6944153_3 45, XY, -7 acute myelomonocytic leukemia - M4 pter qter     6944153 3 Mitelman Database, Reference No. 616 Edit
1638 6944153_4 45, XX, -7 idiopathic myelofibrosis pter qter     6944153 4 Mitelman Database, Reference No. 616 Edit
1639 6944153_8 46, XY, -7, +8 acute myelomonocytic leukemia - M4 pter qter     6944153, 1756498 8 [6944153], 15 [1756498] Mitelman Database, Reference No. 616 Edit
1640 6944153_29 46, XX, del(2)(q?), del(6)(p?), del(7)(q?), add(10)(q?), add(14)(q?), -16, +mar acute promyelocytic leukemia - M3 cen qter     6944153 29 Mitelman Database, Reference No. 616 Edit
1641 6944153_34 43, XY, -4, del(5)(q11q23), der(6)t(4;6)(q21;p24)t(4;4)(q32;p15), -7, ?ins(12;4)(p11;?), -15 [80%]/ 46, XY [20%] [Nov/78: subacute phase]
43, XY, -4, del(5)(q11q23), der(6)t(4;6)(q21;p24)t(4;4)(q32;p15), -7, ?ins(12;4)(p11;?), -15 [93%]/ 46, XY [7%] [Jan/79: subacute phase]
43, XY, -4, del(5)(q11q23), der(6)t(4;6)(q21;p24)t(4;4)(q32;p15), -7, ?ins(12;4)(p11;?), -15 [100%] [May/79: subacute phase]
acute erythroleukemia - M6 pter qter     6944153, 7126479 34 [6944153], B3 [7126479] Mitelman Database, Reference No. 616 Edit
1642 6944153_35 46, XX, t(9;22)(q?;q?) [36%]/ 45, idem, -7 [46%]/46, XX [18%] [Nov/77: acute phase]
46, XX, t(9;22)[5%]/ 45, idem, -7 [42%]/ 46, XX [53%] [Feb/78: acute phase]
acute myeloblastic leukemia - M1 pter qter     6944153 35 Mitelman Database, Reference No. 616 Edit
1643 6944153_47 45, XY, ins(2;5)(q22-23;q14q15), add(6)(p21), der(7)t(6;7)(p21;p22)t(7;19)(q21;q11) or t(7;19)(q21;p11), der(10)t(7;10)(p21;q21), t(14;19)(q11;q?13), -19 [100%] [acute phase]
46, XY [100%][complete remission]
45, XY, add(1)(q?), ins(2;5), add(6), der(7), der(10), t(14;19), -19 [100%] [acute phase]
acute myeloblastic leukemia - M1 pter qter     6944153 47 Mitelman Database, Reference No. 616 Edit
1644 8713578 46, XY, del(7)(q?) chronic neutrophilic leukemia cen qter     8713578     Edit
1645 12152163_SKOV-3 -1p22-p31, +2q22-q32, -3p21-p22, +3q26.1, +5p13-p14, +6p12-q21, 6q22-q23, -7, +8q13-q24.1, +8q22-qter(3x), -9p13-pter, +10p(3x), -12p12-pter, +12q21, +12p(x3), -19p, +17q22 [CGH] serous ovarian carcinoma pter qter     12152163 SKOV-3   Edit
1646 12152163_OVCAR-3_1 +1p34.2-pter, +2p22-p23, -2q21, +3q, +5q23-qter, -6q24-qter, -7p11.2-pter, +7q22-qter, -8q21, +9p23-pter, -9q13-q33, -10p11.2-pter, +11p, +11q12-q14, -11q21-qter, +12p, -13q, +13q14, -14q12-q21, -15q, -16q12.1-q24, +17q22, +18p, -18q21-qter, +19q, +20p13- [CGH] serous ovarian carcinoma pter p11.2     12152163 OVCAR-3   Edit
1647 2158398_20 47, XX, +6, i(7)(q10), del(11)(p12p13)/ 46, XX, +6, -10, -16, del(11)(p?) Wilms tumor pter qter     2158398 20   Edit
1648 2158398_29 53, X, -Y, +6, +7, +9, +10, +12, +15, +18, +20/ 52, X, -Y, +6, +7, +9, +del(12)(q15;q24), +15, +18, +20 Wilms tumor pter qter     2158398 29   Edit
1649 2158398_31 50, X, -Y, +2, +3, +8, +8, +11/ 55, idem, +7, +12, +13, +18, +19 Wilms tumor pter qter     2158398 31 Mitelman Database, Reference No. 3352 Edit
1650 1657374_207 54, X, -X, +2, +6, +7, +12, +13, +17, +18, +r, +mar Wilms tumor pter qter     1657374, 10221336 207 Mitelman Database, Reference No. 4169 Edit
1651 1657374_392 54, X, -X, -4, +6, +7, +9, -12, +13, +20, del(11)(p13p14), +i(1q), +der(4)t(4;?)(p12;?), +4mar Wilms tumor pter qter     1657374, 10221336 392 Mitelman Database, Reference No. 4169 Edit
1652 1657374_528 56, XX, +5, +7, +7, +9, +10, +12, +13, +18, +19, +22 Wilms tumor pter qter     1657374, 10221336 528 Mitelman Database, Reference No. 4169 Edit
1653 1657374_672 65, XXY, -1, -3, -5, +6, +7, -9, -11, +12, der(14)t(1;14)(q12;p13), der(15)t(1;15)(q12;p13), der(16)t(1;16)(q12;q12), +17, -19, +20, -21, -22, -22 Wilms tumor pter qter     1657374, 10221336 672 Mitelman Database, Reference No. 4169 Edit
1654 1657374_74 50, XY, +7, +12, +13, +18/ 51, idem, +17 Wilms tumor (cystic partially differentiated nephroblastoma) pter qter     1657374, 10221336 74 Mitelman Database, Reference No. 4169 Edit
1655 6944153_5 47, XY, +7 [15%]/46, XY [85%] idiopathic myelofibrosis pter qter     6944153 5 Mitelman Database, Reference No. 616 Edit
1656 12128070 47, X?, +7 primary osteorarthritis of the knee/hip pter qter     12128070   synovial cells Edit
1657 12152163_OAW42 +1q, -2q21-q37, -3p12-p21, +3p22-pter, +3q26.1-qter, -4p15.3-qter, -5q12-q13, -9p24-q31, 10q, -11p14-q12, -11q14-q23, -12p, +12q12-q15, -13q, +14q22-qter, -15q12-q21, -15q24-qter, +16p12-p13.2, +17q, -18, +19q13.1-q13.4, +20, -21q11.2-q22 [CGH] serous ovarian carcinoma pter qter     12152163 OAW42   Edit
1658 11352560_1 46, XY, upd(7) mat Silver-Russell syndrome pter qter     11352560 matUPD7 1 isodisomy Edit
1659 11352560_2 46, XY, upd(7) mat Silver-Russell syndrome pter qter     11352560 matUPD7 2 hetero-/isodisomy Edit
1660 11352560_3 46, XX, upd(7) mat Silver-Russell syndrome pter qter     11352560 matUPD7 3 hetero-/isodisomy Edit
1661 12080476_8 LOH(7) primary head and neck squamous cell carcinoma   q31.31 D7S1799/ D7S486 D7S486/ D7S522 12080476 8   Edit
1662 12080476_23 LOH(7) primary head and neck squamous cell carcinoma   q31.3 D7S1799/ D7S486 D7S486/ D7S643 12080476 23   Edit
1663 12080476_26 LOH(7) primary head and neck squamous cell carcinoma   q31.32 D7S1799/ D7S486 D7S643/ D7S480 12080476 26   Edit
1664 12080476_37_1 LOH(7) primary head and neck squamous cell carcinoma   q31 D7S1799/ D7S525 D7S525/ D7S522 12080476 37   Edit
1665 12080476_39 LOH(7) primary head and neck squamous cell carcinoma   q31.3 D7S1799/ D7S486 D7S486/ D7S480 12080476 39   Edit
1666 12080476_41 LOH(7) primary head and neck squamous cell carcinoma   q31 D7S1799/ D7S525 D7S525/ D7S522 12080476 41   Edit
1667 12080476_45_1 LOH(7) primary head and neck squamous cell carcinoma   q31.31 D7S1799/ D7S486 D7S486/ D7S522 12080476 45   Edit
1668 12080476_47 LOH(7) primary head and neck squamous cell carcinoma     D7S1799/ D7S486   12080476 47   Edit
1669 12080476_48 LOH(7) primary head and neck squamous cell carcinoma   q31.32   D7S643/ D7S480 12080476 48   Edit
1670 9892108_143 46, XX [LOH(7)] invasive epithelial ovarian carcinoma     D7S518/ 7G14   9892108 143 primary tumor and metastatic tissue Edit
1671 9892108_216_1 46, XX [LOH(7)] invasive epithelial ovarian carcinoma   q31 D7S518/ D7S523 D7S523/ D7S486 9892108 216   Edit
1672 9892108_8 46, XX [LOH(7)] invasive epithelial ovarian carcinoma   q31.31 D7S518/ D7S523 7G4/ 7G2 9892108 8   Edit
1673 9892108_155_1 46, XX [LOH(7)] invasive epithelial ovarian carcinoma   q31.31   D7S522/ 7G4 9892108 155   Edit
1674 9892108_45_1 46, XX [LOH(7)] invasive epithelial ovarian carcinoma   q31.31 D7S518/ D7S486 7G14/ 7G4 9892108 45   Edit
1675 9892108_179_1 46, XX [LOH(7)]