The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Search Results

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 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
2 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
3 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
4 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
5 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
6 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
7 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
8 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
9 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
10 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
11 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
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 MCN_20060002-114 46, XY, t(7;16)(p15;q22) intrauterine growth retardation p15       MCN ID: 20060002-114 www.mcndb.org Edit
31 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
32 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 12384779_AM 46, XX, inv(7)(p11.2q22) post-natal growth retardation p11.2 q22 D7S1618/ GDB:1317186 D7S477/ D7S518 12384779 AM   Edit
41 12384779_PW 46, inv(7)(p11.2q36) post-natal growth retardation p11.2 q36 D7S1618/ D7Z2   12384779 PW   Edit
42 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
43 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
44 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
45 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
46 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
47 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
48 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
49 12384779_TP 45, XX, t(7;14)(q?;q?)add(7)(p?) post-natal growth retardation pter qter     12384779 TP   Edit
50 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
51 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
52 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
53 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
54 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
55 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
56 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
57 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
58 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
59 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
60 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
61 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
62 10982483 46, XX, r(7) [124]/ 46, XX, dic r(7) [3]/ 47, XX, r(7), +r(7) [2]/ 46, XX, der(7)r(7) [10]/ 45, XX, -C [3]/ 46, XX [1] microcephaly, growth and developmental delay, multiple angiomas, partial sacral agenesis pter q36     10982483 case 13 (present case) 7q36 deletion in the ring chromosomes Edit
63 4518278_2 46, XX, t(2p-;7p+q-) de novo [assumed: t(2;7)(p?;q?)del(7)(qter)] stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism, abnormal neurological findings, hypertelorism qter qter     4518278, 631854, 537019, 6758992, 8135290 JG [4518278], case 13 [537019, 6758992] telomeric deletion Edit
64 11146466_44 46, XX, upd(7) mat intrauterine growth retardation, cerebral hemorrhage, feeding difficulties, triangular face with broad and high forehead, pointed chin, low-set, prominent and dysplastic ears, clinodactyly of 5th fingers and toes, psychomotor developmental delay -Russell-Silver syndrome pter qter     11146466, 12210294 case 44 heterodisomy Edit
65 15523614_2 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 pter qter     15523614     Edit
66 16092121 47, XX, +7 [12]/ 45, X [2] hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, buphthalmos of the left eye, mild mental retardation pter qter     16092121     Edit
67 16317300_2 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 pter qter     16317300   UPD(7) - heterodisomy Edit
68 16317299_2 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 pter qter     16317299   mosaicism for monosomy 7 suggested by microarry gene copy number (50% of blood cells); the other 50% carried two complete copies of chr. 7 that exhibited segemantal UPD(7) Edit
69 15879501_VII 46, XX, upd(7) mat suspected of Silver-Russell syndrome - intrauterine growth retardation, severe postnatal growth retardation, SRS-like features, feeding difficulties pter qter     15879501 VII   Edit
70 Amouri_ESHG2005_2 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 pter qter     5 year-old patient R(7): double ring chr. 7; Amouri et al., ESHG, 2005, #P0306 Edit
71 11102936 47, XY, +7 [43%]/ 46, XY [57%] [skin]
47, XY, +7 [3%]/ 46, XY [97%] [skin, second culture]
46, XY [100%] [blood]
developmental delay, asymmetrical growth, mixed receptive-expressive language disorder, Blaschkolinear skin pigmentary changes (hypo-/hyperpigmentation), aggressive behaviour pter qter     11102936 JB   Edit
72 Sousa_ESHG2006 der(7)t(7;19)(qtel;qtel) pat mental retardation, hypotonia, growth retardation (prenatal onset), microcephaly, round face with broad forehead, broad nasal bridge, short nose with anteverted nares, short wide philtrum, downturned corners of the mouth, thin lips, abnormal frontal lobes [imagiological], minor congenital heart defects; no sacral defects, anorectal anomalies, or haloprosencephaly qter       two unrelated patients monosomy of 7qtel; Sousa et al., ESHG, 2006, P0272 Edit
73 16490798_9 46, XX. arr cgh del(7)(pterqter). ish 46, XX [92]/ 45, XX, -7 de novo [8] ventricular septal defect, absent thumbs, growth retardation, hydronephrosis, preductal coarctation of aorta pter qter     16490798 case 9 8% of patient's cells (WBCs) had monosomy 7 Edit
74 11715006_2 46, XX. ish der(18)t(7;18)(ptel;qtel) profound mental retardation, severe growth restriction, failure to undergo puberty, behavior problems; microcephaly, cleft palate, bilateral ptosis, hypertelorism, epicanthal folds, wide low nasal bridge, anteverted nares, downturned corners of the mouth, camptodactyly of the fingers, scoliosis, bilateral talipes equinovarus; pulmonary stenosis, wasting of the calf muscles, hypotonia, severe periodontal disease; hypothyroidism at age 15 pter pter     11715006 case 2 trisomy of 7pter; mother had balanced t(7;11) detected by SKY Edit
75 16378923_2 46, XY, del(7)(pter) de novo severe mental retardation, dysmorphic features/congenital anomalies, prenatal growth retardation pter pter     16378923 case 2   Edit
76 18300171_MM6 46,XX,r(7) [10% ]/46,XX dysmorphic face, upward slanting palpebral fissures, broad nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf-au-lait spots, microcephaly, growth delay, speech delay, severe intellectual impairment, seizures pter qter     18300171 MM6   Edit
77 18852357_3 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 pter qter     18852357   maternal disomy took the form of heterodisomy Edit
78 19364767_1 4?,X?,upd(7)mat Silver-Russell syndrome, intrauterine growth retardation, postnatal growth retardation         19364767   observed in 5 of 188 (2.3%) RSS cases , one case had segmental UPD Edit
79 19364767_2 4?,X?,upd(7)mat intrauterine growth retardation, postnatal growth retardation pter qter     19364767   observed in 2 of 20 patients with IUGR/PNGR Edit
80 11477611_2 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 q10 qter     11477611, 11483637   paternal isodisomy of 7p, maternal isodisomy of 7q Edit
81 9603415_2_1 45, XY, -7/ 46, XY, i(7)(q10) Shwachman-Diamond syndrome, refractory anemia, short stature, growth hormone deficiency, metaphyseal chondroplasia developed marrow hypoplasia q10       9603415, 9766504, 12472589, 15474150, 16382447 case 2 [9603415], 15 [9766504], 3 [16382447]   Edit
82 12687662_del(7q) 4?, X?, del(7q) intrauterine growth retardation, cleft lip and palate q10 qter     12687662 del(7q) in Table 5   Edit
83 4518278_1 46, XX, t(2p-;7p+q-) de novo [assumed: t(2;7)(p?;q?)del(7)(qter)] stunted physical growth, moderate mental retardation, urinary malformation, renal insufficiency, hypercorticalism, abnormal neurological findings, hypertelorism q10 qter     4518278, 631854, 537019, 6758992, 8135290 JG [4518278], case 13 [537019, 6758992]   Edit
84 3983641_1_2 46, XX, t(7;14)(q35;q11)/ 46, XX, t(7;14)(p13;q11)/ 46, XX, i(7q)/ 46, XX, inv dup(7)(q35) [PHA-stimulated ] immunodeficiency, growth failure, undefined chromosome fragility syndrome q10       3983641 case 1   Edit
85 669706_1 46, XY, del(7)(q11q21) de novo growth retardation, mental subnormality, possible Russell-Silver syndrome q11 q21     669706, 537019, 6758992, 2194394, 1456281, 15732063 case 1 [669706], case 18 [537019], case 2 [6758992], case 5 [2194394], case 6 [1456281]   Edit
86 458833_2 46, XX, del(7)(q11q22) de novo mental & developmental retardation, growth delay (pre- & post-natal), severely impaired hearing, no speech, brachycephaly, prominent forehead, marked micrognathia, cleft palate, sacral dimple, hypotonia q11 q22     458833, 6758992, 2194394, 1456281, 15732063 case 2 [458833], case 5 [6758992], case 10 [2194394], case 11 [1456281]   Edit
87 6655677 46, XY, dup(7)(q11q22) de novo growth delay, developmental delay, prominent metopic suture, enophthalmos, high arched palate, genitourinary anomalies q11 q22     6655677, 12407716, 8602998, 12818530, 11531975     Edit
88 ECACC_91042301 46, XX, del(7)(q11q21.1) mental retardation, growth delay, microcephaly, wide mouth, small face, congenital heart disease q11 q21.1 RPCI-11-19B17/ CTB-139P11   91042301 (cell line: DD0251) molecular date unpublished; www.ecacc.or.uk Edit
89 Unpublished_13756 47 XY, +mar [10]/ 46, XY [marker was identified as der(7)(q11.1q11.23) ] Asperger syndrome?, growth delay, no speech, large head, small triangularly-shaped face with mild midface, upslanting eyes, clinodactyly of 5th fingers q11.1 q11.23 RPCI-11-18N13/ RPCI-11-19B17   13756 data unpublished Edit
90 16840569_16 46, XX, del(7)(q11.22q11.23) de novo autism (DMS-IV), Williams syndrome, normal growth, hypospadias, motor developmental delay, language delay, dorsolumbar scoliosis, dysmorphic features (anteverted nares, long philtrum, malar hypoplasia, narrow palate) q11.22 q11.23 RP4-635O5/ RP11-313P13 AC004883/ RP11-107L23 16840569 case 16 deletion of maternal origin Edit
91 20186810_3 46,XY,rec(7)dup(7q)inv(7)(p22.3q11.22).ish rec(7)(pVYS231A+,D7S486/D 7S522+,ELN/LIMK1/D 7S613+;pVYS230A-,ELN/LIMK1/D 7S613+,D7S486/D7S522+,p VYS231A+).arr 7p22.3(52,899–1,948,072)x1,7 q11.22q11.23(71,760,154-–76,1 08,223)x3,7q11.23q36.3(76,434,8 28–158,801,1 52)x3 mat stillborn, growth retardation, micrognathia, ventricular septal defect, aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, cerebellar hypoplasia, receding chin, flattened nasal bridge, low set abnormally folded ears q11.22 q11.23     20186810   mother's karyotype: 46,XX,inv(7)(p22q11.2).ish inv(7) Edit
92 12210300_1 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] q11.23   RPCI-1-267N24   12210300   mother had same translocation; maternal heterodisomy 7; molecular data is unpublished and not consistent with karyotype Edit
93 11685205_15441_2 46, XX, inv(7)(q11.23q21.3) de novo. WBSinv-1 [detected by FISH] ectrodactyly, WBS facies, developmental delay, strabismus, WBS-like behaviour profile, lordosis, chronic otitis media, normal growth, inattention q11.23 q11.23 D7S672/ D7S2479 D7S1870/ D7S715 11685205 15441 patient, mother (16582), half-sister, maternal grandmother, great aunt, and aunt carry inv-I; mother also has some chr. 7 showing inv-II variant Edit
94 Unpublished_17495 46, XX, WBS INV-II Williams syndrome-like, dsymorphic features, growth retardation, developmental delay, hypersensitivity to sound q11.23 q11.23 D7S613/ D7S1870 D7S2490/ D7S1440 12690205 17495   Edit
95 11685205_15441_1 46, XX, inv(7)(q11.23q21.3) de novo. WBSinv-1 [detected by FISH] ectrodactyly, WBS facies, developmental delay, strabismus, WBS-like behaviour profile, lordosis, chronic otitis media, normal growth, inattention q11.23 q21.3 AC067941/ AC005074 AZ757826/ AZ757825 11685205, 12690205 15441 patient, mother (16582), half-sister, maternal grandmother, great aunt, and aunt carry inv-I; mother also has some chr. 7 showing inv-II variant Edit
96 16236740_1 46, XY, dup(7)(q11.23q11.23) de novo [invisible] growth & developmental delay, severe expressive-language delay, ADHD, mild dysmorphic features (no facial features of Williams syndrome) q11.23 q11.23 RP11-396K3 RP11-813J7 16236740, 17075606 patient 1 sister had ADHD but no duplication; BAZ1B, LIMK1, WBSCR1, RFC2, and GTF2I showed increased expression; cell line # 27166 Edit
97 16317299_3 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 q11.23 qter D7S1870/ D7S669   16317299   segmental maternal UPD (isodisomy, only seen in blood sample) detected by microsatellite analysis & microarray analysis Edit
98 16317299_4 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 q11.23 q11.23 SNP_A-1518210/ SNP_A-1517101 SNP_A-1516005/ D7S1870 16317299   7q LOH indicated by microsatellite analysis & microarray analysis (seen only in blood sample) Edit
99 Toksoy_ESHG2006_2 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 q11.23 q31.2       7q11.23-q31.2 was inserted into 7p15.3; Toksoy et al., ESHG, 2006, P0371 Edit
100 Tegay_ESHG2006 del(7)(q11.23q11.23) WBS facies, behavioral profile of WBS; no elastin arteriopathy, connective tissue abnormalities, growth or mental retardation q11.23 q11.23       2.7 Mb deletion telomic to ELN and LIMK1 - ELN and LIMK1 were not deleted; Tegay et al., ESHG, 2006, P0287 Edit
101 20186810_4 46,XY,rec(7)dup(7q)inv(7)(p22.3q11.22).ish rec(7)(pVYS231A+,D7S486/D 7S522+,ELN/LIMK1/D 7S613+;pVYS230A-,ELN/LIMK1/D 7S613+,D7S486/D7S522+,p VYS231A+).arr 7p22.3(52,899–1,948,072)x1,7 q11.22q11.23(71,760,154-–76,1 08,223)x3,7q11.23q36.3(76,434,8 28–158,801,1 52)x3 mat stillborn, growth retardation, micrognathia, ventricular septal defect, aortic coarctation, bradyarrhythmia, pericardial effusion, bilateral hydronephrosis, infravesical obstruction, cerebellar hypoplasia, receding chin, flattened nasal bridge, low set abnormally folded ears q11.23 q36.3     20186810   mother's karyotype: 46,XX,inv(7)(p22q11.2).ish inv(7) Edit
102 Unpublished_11895 46, XX, del(7)(q21q21) mental & growth retardation, microcephaly, profound deafness, minor unilateral split hand/split foot q21 q21   D7S491/ AZ757833 11895 data unpublished Edit
103 6711614 46, XY, del(7)(q21q21), t(6;14)(q21;q12) de novo microcephaly, unusual facial features, micropenis, growth retardation, intestinal anomalies q21 q21     6711614, 15732063     Edit
104 458833_1 46, XX, del(7)(q21q32) de novo growth retardation, brachycephaly, frontal bossing, sunken eyes, short philtrum, large mouth, large ears with prominent antihelices, widely spaced nipples, diastasis recti, sacral dimple, hypotonia, absence of speech, early feeding difficulties q21 q32     458833, 7228036, 6758992, 7154049, 3879441, 2301476, 11045577 case 1 [458833], case 11 [6758992], ref. 4 [7154049], ref. F [ 2301476]   Edit
105 Johnson_ASHG1978_proband 46, XX, del(7)(q21q22) mat intrauterine growth retardation, minor congenital anomalies, developmental delay, sacral dimple with a V-shaped skin fold over the sacrum q21 q22     7228036, 3228144, 2194394, 2301476, 1456281, 15732063 proband [3228144], case 12 [2194394], ref. L [2301476], case 20 [1456281] Johnson et al., 1978, Am J Hum Genet 30:84A, abstract Edit
106 16922723 46, XY, upd(7)(q21qter) mat/ 46, XY IUGR, post-natal growth retardation, borderline sweat tests; highly variable sweat chloride concentrations q21 qter D7S2429/ D7S524   16922723   mosaic partial isodisomic maternal UPD; patient and mother were homozygous for F508del Edit
107 11424924 46, XX, del(7)(q21.1q21.3) de novo mental & developmental retardation, partial deficiency of growth hormone secretion, ectrodactyly of the right foot, submucous cleft palate, congenital vertical talus, malformations of the middle ear, profound sensorimeural hearing loss, hypertelorism, depressed nasal bridge, large biparietal diameter, hypopigmented retina, micrognathia, carious primary teeth, hypodontia, sparce light hair, cryptorchidism, joint laxity, hypodontia, short stature, Mondini dysplasia, facial dysmorphism, q21.1 q21.3 rs801856 rs951987 11424924, 15732063, 17898012 17898012_Patient 3   Edit
108 15326624_1 46, XY, t(5;7;6)(6pter-> 6p24::7q21.1 ->7q21.3::5p13.2 5qter; 7pter-> 7q21.1::5p13.2-> 5pter; 7qter-> 7q21.3::6p24-> 6qter) de novo [del(7q) was detected by Array-CGH] mental and developmental retardation, growth delay, language processing disorder, bilateral cleft lip/palate, sensorineural hearing loss in the right ear, recurrent otitis media, upslanting palpebral fissures, broad nasal bridge, flaring of the alae nasi, mild pectus excavatum, clinodactyly of 5th fingers q21.1 q21.3     15326624 proband   Edit
109 16080295 del(7)(q21.1q22) de novo growth retardation, mental retardation, mild microcephaly, hypersensitivity to noise, mild spasticity, short palpebral fissures, alternant exotropia, compensated hypermetropic astigmatism, hypotelorism, hypoplastic labia majora and minora, clinodactyly of fingers 4 and 5 q21.1 q22     16080295, 18565486 case 26 [18565486] ~3 Mb deletion disrupting MAGI2 gene detected by microarray Edit
110 17230488_2 46, XX, t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3) de novo psychomotor developmental delay, complete deafness, growth retardation, low-set ears, slight facial asymmetry, severe mental retardation, microcephaly q21.1 q21.3 D7S2791/ D7S1934 D7S1583/ D7S2009 17230488, 18565486 case 27 [18565486] ~16 Mb deletion detected by microarray Edit
111 Unpublished_16310 46, XX, del(7)(q21.11q21.3) seizure disorder (generalized and myoclonic seizures), growth & developmental delay, no speech q21.11 q21.3 D7S675/ D7S669 D7S2430/ D7S821 16310 data unpublished Edit
112 11241468 46, XY, t(2;7)(p14;q21.11) de novo CHARGE syndrome: bilateral choanal atresia, absence of semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, facial anomalies q21.11   CHARGE   11241468, 15235037 CZ breakpoint (CHARGE) is localized in Y19188 (ACZ) , ~200kb downstream of SEMA3E Edit
113 18565486_16310 46, XX, del(7)(q21.11q21.3) seizure disorder (generalized and myoclonic seizures), growth & developmental delay, no speech q21.11 q21.3 D7S675/ D7S669 D7S2430/ D7S821 18565486 16310 [unpublished], case 24 [18565486] ~15-20 Mb deletion disrupting MAGI2 gene detected by microsatellite markers Edit
114 19864897 46,XX,inv(7)(q21.12q34)dn.arr 3p12.3p13(73,200,000-79,000,0 00)x1 dn neurodevelopmental delay, growth retardation, broad forehead, hypertelorism, broad nasal bridge, microretrognatia, pointed chin, hypophysishypoplasia, gastroesophageal reflux, clinodactyly, preauricular appendix, myopia q21.12 q34     19864897   discussion of ROBO1 , ROBO2 , PDZRN3 and CNTN3 as candidate genes Edit
115 19401716_1 46,XX,del(7)(q21.13q22.1)de novo.arr 7q21.13q22.1(89,870,000-98,520,0 00)x1 intra-uterinegrowth retardation, split hand/foot malformation, frontal bossing, micrognathia, small dysplastic ears, long philtrum, congenital deafness due to aplasia of the cochlear nerves q21.13 q22.1     19401716 Patient 1 ~8.66Mb deletion, DLX5, DLX6 and DSS1 genes deleted Edit
116 9350823_daughter 46, XX, der(7)ins(22;7)(q13.3;q21.2q22.1) mat intrauterine growth, growth retardation, moderate developmental delay, left split hand, plagiocephaly, microcephaly q21.2 q22.1     9350823, 15732063 daughter (III-5) monosomy of 7q21.2-q22.1 Edit
117 8135275 46, XX, inv(7)(q21.2q31.2) mat cardio-facio-cutaneous (CFC) syndrome: characteristic facial appearance with high forehead, bitemporal narrowing, hypoplastic supraorbital ridges, downslanting palpebral fissures, ptosis, depressed nasal bridge, posteriorly angulated ears with thick helices), ectodermal dysplasia, slow growth, congenital heart disease q21.2 q31.2     8135275 M.M. [8135275], MCN ID:19930009-999 unaffected mother and maternal grandmother carried same inversion; www.mcndb.org Edit
118 Benke_ASHG2003 46, XY, del(7)(q21.2q21.3) pat IUGR, short stature, growth hormone deficiency, partially empty sella, microcephaly, moderate mental retardation, deafness, facial features resembling Seckel Syndrome q21.2 q21.3       deleted region extended from D7S1813 to D7491; Bebke et al., ASHG 2003, Program #604 Edit
119 18841024 46,XY,del(7)(q21.2q31.1) fetal growth restriction, cardiomegaly, hypertelorism, wide nasal bridge, low-set ears, cleft palate, prominentcheeks, prominent nuchal skin, simian crease and lower extremitypostaxial polydactyly type A q21.2 q31.1     18841024 22 week fetus paternal karyotype 46,XY,der(11)ins(11; 7)(p15.1;q31.1q21.2) with normal phenotype Edit
120 1741973 46, XY, del(7)(q21.3q22) de novo growth delay, unilateral split hand (left), bilateral split foot, genito-urinary anomalies, developmentaly delay, failure to thrive, microcephaly, myoclonic seizures q21.3 q22     1741973, 7987313, 7616545, 8782053 D4 [7987313], ref. 9 [8782053]   Edit
121 ECACC_99032504_1 46, XX, ins(7)(?q21.3?q22?q31.1)pat small at birth, growth hormone deficiency, cleft palate, hearing loss q21.3       99032504 (cell line: CC0208); MCN ID: 19940001-032 daughter of ECACC_99032503; www.ecacc.or.uk; www.mcndb.org Edit
122 7894731_D6 46, XY, del(7)(q21.1q21.3-22.1) bilateral split hand/split foot, mild mental retardation, growth retardation, hypotonia, low-set malformed ears, micrognathia, long philtrum, high narrow palate, conductive hearing loss q21.3 q21.3 D7S527/ D7S1812   7894731, 8733122, 8782053, 15732063 D6 [7894731, 8733122], ref. 17 [8782053] first reported in Hudgins et al., 1994, Am J Hum Genet 55 (Suppl.):A107, #609; molecular cytogenetic data is not consistent with karyotype Edit
123 23169702 46,XX.arr 7q21.3(96,303,736–97,022,3 35)x3 de novo [hg18] unilateral syndactyly of third and fourth fingers of right hand, overgrowth and lateral deviation of right great toe, right split foot malformation with absent fifth toe q21.3 q21.3     23169702   ~719 kb duplication harbouring only DLX5 and DLX6 Edit
124 Muneer_A383 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails, clinodactyly, enlarged clitoris, short sternum and delayed growth and development q22         Muneer et al, abstract, #383, Am J Hum Genet 34:A137 Edit
125 11078569 46, XX, dup(7)(q22q31.3) de novo growth and pyschomotor retardation, microcephaly, frontal bossing, high arched and narrow palate, hirsutism q22 q31.3     11078569 HB   Edit
126 ECACC_99032504_2 46, XX, ?dir ins(7)(q21.3?q22?q31.1)pat small at birth, growth hormone deficiency, cleft palate, hearing loss q22 q31.1     99032504 (cell line: CC0208); MCN ID: 19940001-032 daughter of ECACC_99032503; www.ecacc.or.uk; www.mcndb.org Edit
127 Muneer_1982 46, XX, der(2)t(2;7)(q37;q22) de novo multiple congenital anomalies, psychomotor retardation, large anterior fontanelle, small eyes, epicanthal folds, prominent nasal bridge, club foot, hypoplastic nails, clinodactyly, enlarged clitoris, short sternum and delayed growth and development q22       11536263   Muneer et al, 1982, Am J Hum Genet 34: A137 Edit
128 Unpublished_13462 46, XX, del(7)(q22.1q31.2) de novo severe motor and cognitive delays, low birth weight (normal growth after birth), microcephaly, no dysrmophic features, hypotonia, overlapping toes in the left foot q22.1 q31.2 D7S2456/ D7S799 D7S2513/ D7S661 13462 data unpublished Edit
129 Brodie_2005 46, XX, del(7)(q22.2q31) de novo developmental delay, speech-language disorder, growth delay, microcephaly, hypertelorism, down-slanting narrow palpebral fissures, flat nasal bridge, cardiac malformation (patent foramen ovale, ductus arteriosus, peripheral pulmonic stenosis), hypotonia, severe bilateral arachnodactyly and clinodactyly of II, IV, V q22.2 q31       reported at Annual Clinical Genetics Meeting, 2005 (#137) Edit
130 8135285 46, XY, dup(7)(q22q34) de novo autism, growth and mental retardation, developmental delay, no speech, frontal and parietal bossing, deep-set eyes, starbismus, bilateral optic nerve hypoplasia, mild dilatation of the cerebral ventricles q22.3 q35 RP11-361C14/ RP11-89M2 RP4-669B10/ RP11-79M8 8135285, 11531975, 12818530 26294 [unpublished] molecular data unpublished Edit
131 7228036 46, XX, del(7)(q31q34) de novo growth retardation, developmental retardation, peculiar cry (cat-like), microcephaly, low-set ears, thin upper lip, high palate, right hand with digitalized thumb and Sydney-type flexion crease q31 q34     7228036, 7154049, 3879441, 3265313, 7228036 ref. 6 [7154049]   Edit
132 4757516_CH 46, XX, der(21)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis q31       4757516, 4438062, 1084120 propositus, C.H. trisomy of 7q31-qter; son of 4757516_father, sibling of 4757516_fetus Edit
133 648173 46, X, inv ins(X;1)(q28;p22p13)inv(1)(p22q32)t(X;1)(q28;q32), t(7;13)(q31;q32) de novo growth retardation, mental and motor retardation, venticular septal defect, multiple flexion contractures of the limbs, mild hemiplegia on the left side, mongoloid slant of the eyes, significant loss of hearing, normal dermatoglyphics q31       648173     Edit
134 4757516_fetus 46, XY, der(7)t(7;21)(q31;qter) pat growth and developmental delay, bilateral cataracts, frontal bossing, low-set ears, micrognathia, heart murmur, dysplastic hip, scoliosis q31       4757516, 537019, 7390476, 6758992 fetus [4757516], case 6 [537019], case 11 [7390476], case 14 [6758992] monosomy of 7q31-qter; son of 4757516_father, sibling of 4757516_CH Edit
135 17033973_21 46, XX, del(7)(q31q33?) de novo intrauterin & postnatal growth retadation, developmental delay, hypotonia, no speech, mild dysmorphic features, intermittent esotropia, 5th toes overlapping 4th toes q31 q33 AC002487/ RP11-90N13 D7S640/ RP11-79E7 17033973 patient 21, 11912 deletion of paternal origin Edit
136 17033973_1 46, XX, del(7)(q31.1q31.3) de novo developmental verbal dyspraxia, intellectual and developmentally delays, in-coordinated swallowing with aspiration, intercurrent respiratory infections, behavioural disturbance, very slow hair growth q31.1 q31.33 D7S2459/ D7S692 RP11-106F1/ D7S1517 17033973 patient 1, 13772 15-Mb deletion of paternal origin Edit
137 Adir_ASHG2005 del(7)(q31.1q31.3) de novo suspected of Russell-Silver syndrome: pre-/postnatal growth retardation, sparse hair, small-triangular face, high-wide forehead, low rotated ears, hypoplasia of the mid-phalanges of fingers, clinodactyly of the 5th finger q31.1 q31.3 D7S692/ D7S1817 CFTR/ D7S2487   deletion of paternal origin (12 Mb); Adir et al., ASHG 2005, Program #655 Edit
138 3789011_1 46, XY, der(18)t(7;18)(q31.2;q23) mat growth retardation, mental retardation, inverted nipples, minor craniofacial anomalies, cleft palate, ambiguous genitalia, vermis hypoplasia, apneic spells q31.2       3789011, 12818530 case 1 (V-7) trisomy 7q31.2-7qter; mother had balanced t(7;18); 3789011-2 was third cousin once removed Edit
139 3789011_2 46, XY, der(18)t(7;18)(q31.2;q23) mat growth retardation, minor craniofacial anomalies, cleft palate, hypoplasia of the corpus callosum, ambiguous genitalia, apneic spells q31.2       3789011 case 2 (VI-3) trisomy 7q31.2-7qter; mother had balanced t(7;18); 3789011_1 was third cousin once removed Edit
140 Toksoy_ESHG2006_3 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 q31.2 q34       7q31.2-q34 was inserted into 7p21; Toksoy et al., ESHG, 2006, P0371 Edit
141 22303804 4?,XX,dup(7)(q31.2q33) growth restriction, short stature, speech delay, inguinal hernia, strabismus, intellectual disability q31.2 q33     22303804   ~22.3 Mb duplication; discussion of ING3 and LEP as candidate genes Edit
142 15326624_2 46, XY, t(5;7;6)(6pter-> 6p24::7q21.1 ->7q21.3::5p13.2 5qter; 7pter-> 7q21.1::5p13.2-> 5pter; 7qter-> 7q21.3::6p24-> 6qter) de novo [del(7q) was detected by Array-CGH] mental and developmental retardation, growth delay, language processing disorder, bilateral cleft lip/palate, sensorineural hearing loss in the right ear, recurrent otitis media, upslanting palpebral fissures, broad nasal bridge, flaring of the alae nasi, mild pectus excavatum, clinodactyly of 5th fingers q31.3 q31.3 RP11-110C11/ CTB-133K23 RP11-112P4/ RP11-81B7 15326624 proband   Edit
143 Unpublished_19 46, XX, del(7)(q31.33q34) cardiomyopathy, ASD, dysmorphic features, slow growth and developmental delay q31.33 q34     19 data unpublished Edit
144 631854 46, XX, del(7)(q32) de novo, t(8;9)(q12;q33) pat growth and developmental delay, microcephaly, bulbous nose, prominent lips and philtrum, esotropia, latent hypermetropia, spasticity q32 qter     631854, 6758992, 8135290 proposita [631854], case 21 [6758992] father, grandfather and sister had same translocations Edit
145 2333907_5 46, XX, del(7)(q32) de novo hydrocephalus, probably hydronephrosis, growth retardation, holoprosencephaly, cebocephaly, hypertelorism, single nostril, dilated colon q32 qter     2333907, 8135290 patient 5   Edit
146 6533358 46, XY, del(7)(q32) de novo mental and growth retardation, wide and flat face with a prominent forehead, heavy cheeks, bulbous nose with a fleshy, flattened tip, thick lips, small and round chin, flattened occiput, high-arch palate, short neck, wide-spaced nipples, protruding heels, left double ureter and double pelvis, epileptic seizure q32 qter     6533358, 8135290 S.N. father had 47, XYY Edit
147 9391882_3 46, XX, del(7)(q32) de novo large cleft lip, growth retardation, holoprosencephaly, renal hypoplasia, severe adrenal hypoplasia, abnormal pulmonary lobulation q32 qter     9391882 case 3   Edit
148 1327590_2 46, XX, t(2;3)(q32.2;p24.2)inv(2)(p21q32.2), t(7;18)(q32;q12.2), del(10)(p13) de novo bilateral cleft lip and palate, slow pre and postnatal growth, minor congenital anomalies, microcephaly, vesicoureteral reflux with bilateral hydronephrosis/- ureter q32       1327590 patient 2   Edit
149 2333907_3 46, XY, der(7)t(7;8)(q32;p23.1) pat holoprosencephaly, cyclopia, intrauterine growth retardation q32       2333907, 8135290 patient 3 monosomy of 7q32-qter Edit
150 6604481_Rudiger 46, XY, der(9)t(7;9)(q32;p24) mat mental and statomotoric retardation, muscular hypotonia, growth delay, dysmorphic features, hypoplastic external genitalia, cerebral convulsions q32       6604481 Rudiger K. (III-5) trisomy of 7q32-qter; sigling of 6604481_Sabine Edit
151 10766986_brother 46, XY, der(14)ins(14;7)(q13;q32q34) mat mental and growth retardation, seizures disorder, generalized muscular hypotonia, kyphoscoliosis, minor anomalies, prominent midface, rigid gait q32 q34     10766986 brother of propositus trisomy of 7q32-q34; brother of 10766986_propositus Edit
152 Penchaszadeh_ASGH1982 46, XY/XY, der(7)t(1;7)(q32;q32) pat growth and mental retardation, seizures, macrocephaly, frontal prominence, enlarged intracranial ventricles, downward eye slant, low set ears, long philtrum, high arched palate, pectus excavatum, ventricular septal defect, pulmonic stenosis, long fingers and 9/10 whorls on fingertips q32       8135290 two 2-year-old first cousins (male and female) monosomy of 7q32-qter; Penchaszadeh et al., Am J Hum Genet 34: 138A, 1982 Edit
153 7130958 46, XX, del(7)(q33q35) de novo severe mental retardation, growth retardation, microcephaly, facial dysmorphism with prominent forehead, large retroverted ears, mongoloid slant of eyes, bulbous nose with broad prominent base, smooth philtrum, large downturned mouth with thick lips, clitoromegaly, hypoplastic labia minora q33 q35     7130958, 3839444 case 3 [3839444]   Edit
154 2248294_1 46, XY, der(14)t(7;14)(q33;p12) mat dysmorphic features, macrocephaly, hypotonic, mental retardation, short neck, growth retardation q33 qter     2248294, 10951456, 12407716, 11531975, 11113903, 12818530 patient 1 trisomy of 7q33-qter; mother had balanced t(7;14); sibling of 2248294_2 Edit
155 1084120 46, XX, der(18)t(7;18)(q33;p11.3) mat psychomotor retardation, hypotonia, normal growth, facial asymmetry with palpebral fissures slanted downwards and outwards, deep-set eyes, divergent strabismus q33       1084120, 7390476 proposant [1084120], case14 [7390476] trisomy of 7q33-qter; mother had balanced t(7;18) Edit
156 17230488_1 46, XX, t(6;7)(q23.3;q32.3)del(7)(q21.1q21.3) de novo psychomotor developmental delay, complete deafness, growth retardation, low-set ears, slight facial asymmetry q33   RP11-10I12/ RP11-116J14   17230488     Edit
157 7897621_3 46, XY, del(7)(q34) de novo blepharophimosis, epicanthus inversus, ptosis (similar to BPES), growth and developmental delay, microcephaly, hypospadias, palatal ridge, genital malformations resembling Smith-Lemli-Opitz syndrome q34 qter     7897621, 9321768 case 3 [120573]   Edit
158 Unpublished_C70003-3 46, XX, del(7)(q34) growth and develpmental delay, no speech, microcephaly, esotropia, scoliosis (due to missing L3-5) q34 qter D7S1824/ D7S2513   C70003-3 data unpublished Edit
159 3342549_2 46, XY, t(3;7)(q27;q35)del(7)(q34q36) de novo severe hypotonia, microbrachycephaly, congenital anomalies, seizures, growth retardation, hearing deficit, psychomotor retardation, severe mental retardation q34 q36     3342549 P.B.   Edit
160 1576752_BH 46, XY, der(7)t(7;8)(q34;q24.1) pat growth retardation, microcephaly, atrophic right eye, esophageal atresia with distal fistula, left hydroureteronephrosis with a patent foramen ovale q34       1576752 B.H. monosomy of 7q34-qter; father had balanced t(7;8) Edit
161 8309904 46, XX, der(7)t(7;18)(q34;q21.3) mat growth retardation, bilateral cleft lip/palate, absence of median cerebral structures, semilobar holoprosencepaly q34       8309904, 15517824   monosomy of 7q34-qter Edit
162 1475246 46, XX, del(7)(q34) severe growth retardation at birth, low-set ears, cleft lip and palate, short neck, coarctation of the aorta, hepatic fibrosis q34 qter     1475246, 8135290 fetus placental biopsy showed 46,XX karyotype Edit
163 Baumann_1980 46, XY, der(7)t(1;7)(q44;q34) mat growth retardation, psychomotor developmental delay, microcephaly, prominent head, short nose with bulbous tip, large dysplastic ears, hydronephrosis, bladder dysfunction, rectal dysfunction, hypospadias q34       3055986, 8135290   monosomy of 7q34-qter; Baumann et al., 1980, Klinische Genetik in der Padiatrie, 2nd Symposium, pp209-213 Edit
164 16470702 46, XX, del(7)(q34q36.2) [detected by HR-CGH] long QT syndrome type 2, pre- & postnatal growth retardation, feeding problems, psychomotor developmental delay, severe attention deficits, motor hyperactivity disorder, seizures, microcephaly, hypermetropia, sensorineural hearing impairment, dysmorphic features, incisor malocclusion, (only twin B) coloboma q34 q36.2     16470702 Twins A & B KCNH2 deleted; deletion size, 12.2 - 12.4 Mb Edit
165 8862625_B 46, XY, t(3;8)(3qter-> 3p13::8q21.3-> 8qter; 8pter-> 8q21.3::3p13-> 3pter), t(6;18;6;7)(6pter-> 6p11.2::18q21-> 18pter; 18qter-> 18q21::6p11.2->6q25::7q34-> 7qter; 7pter-> 7q34::6q25-> 6qter) de novo [amniocentesis at 14.9 wks] prominent nasal root, metopic ridge, scoliosis, barrel chest, hypotonia, Hirschsprung disease, growth & psychomotor delay q34       8862625, 16470734 patient B   Edit
166 19838731_1 46 XX.arr 7q34q35(138,293,371–148,443,9 94)x3 de novo,7q36 (148,472,027–157,265,9 94)x1 de novo Currarino syndrome, pre- and post-natal growth impairment, microcephaly, hypoplastic inferior vermis, sensorineural deafness, sloping forehead, low-set hair, large ears, palpebral ptosis, hypotelorism, epicanthal folds, hypoplasic eyebrows, depressed nasal root, prominent maxilla, microretrognathia,t wo large maxillary central incisors, small hands, short thumbs, partial syndactyly of toes, hypotonia q34 q35     19838731 proband ~10.3Mb duplication; father has asymptomatic total posterior sacral canal schisis; proband’s sister has asymptomatic partial schisis of the sacrum canal Edit
167 738736 46, XX, del(7)(q35) de novo growth and developmental delay, frontal bossing, microcephaly, deep-set eyes, bulbuous tip of the nose, large ears q35 qter     738736, 6758992, 8135290 AC07 1975 [738736], case 30 [6758992]   Edit
168 3342549_1 46, XY, t(3;7)(q27;q35)del(7)(q34q36) de novo severe hypotonia, microbrachycephaly, congenital anomalies, seizures, growth retardation, hearing deficit, psychomotor retardation, severe mental retardation q35       3342549 P.B.   Edit
169 9391882_4 46, XX, der(7)t(1;7)(q41;q35) mat holoprosencephaly, cardiac malformations, craniofacial dysmorphism, cyclopia, growth retardation, hydronephrosis, died two hours after delivery q35       9391882 case 4 monosomy of 7q35-qter; mother had three spontaneous miscarriages and her karyotype was 46, XX, t(1;7)(q41;q35), t(8;9)(q24.23;q22.1) Edit
170 12809671_son 46, XY, der(7)ins(7;2)(q35-36;p21p23) pat Gilles de la Tourette syndrome, obsessive compulsive disorder, mental retardation, growth retardation q35 q36 AC092676   12809671 son breakpoint was located in intron 8 of CNTNAP2; son of 12809671_father Edit
171 12809671_daughter 46, XX, der(7)ins(7;2)(q35-36;p21p23) pat Gilles de la Tourette syndrome, obsessive compulsive disorder, mental retardation, growth retardation q35 q36 AC092676   12809671 daughter; MCN ID: 20030013-999 breakpoint was located in intron 8 of CNTNAP2; daughter of 12809671_father; www.mcndb.org Edit
172 1084116 47, XX, +der(15)t(7;15)(q35;q14) mat severe growth and mental retardation, microcephaly q35       1084116 M.J.C. (III-4) trisomy of 7q35-qter; mother had balanced t(7;15) Edit
173 3983641_1_3 46, XX, t(7;14)(q35;q11)/ 46, XX, t(7;14)(p13;q11)/ 46, XX, i(7q)/ 46, XX, inv dup(7)(q35) [PHA-stimulated ] immunodeficiency, growth failure, undefined chromosome fragility syndrome q35 qter     3983641 case 1   Edit
174 Numabe_1 del(7)(q35q36.3) microcephaly, brachycephaly, right blepharoptosis, right microphthalmia, hypotelorism, microtia, low nasal bridge, bulbous nose, anteverted nostril, high philtrum, microstomia, high-arched palate, short neck, short sternum, widely spaced nipples, large areola of nipples, pectus excavatum, left sacral dimple, sacral agenesis, growth retardation q35 q36.3 D7S505/ D7S483 D7S637/ D7S594 del(7)(q35q36.3) Numabe et al. - personal communication Edit
175 7617582 46, XX, der(7)t(2;7)(q24.1;q35) mat intrauterine growth retardation, dilatation of the lateral cerebral ventricles, corpus callosum agenesis, lack of the olfactory bulbs, flattened face with prominent front, hypoplastic nose with anteverted nostrils, wide & prominent nasal root, narrow upward slanting palpebral fissures, mild hypertelorism, low-set & posteriorly rotated ears, elongated philtrum, month with down-turned corners * thin upper lip, retrognathia, short neck, widely spaced nipples; aborted at 22 weeks q35       7617582 fetus monosomy of 7q35-qter; unaffected mother and two sisters had balanced t(2;7) Edit
176 9391882_1 46, XX. ish del(7)(q36)(wcp7+, tel7q-) de novo holoprosencepahly, abnormal sacrum, growth retardation, facial dymorphism q36 qter     9391882 case 1   Edit
177 2624261_II-1 46, XX, der(7)t(7;9)(q36;q34) mat. ish der(7)t(7;9)(D7Z1+, D7S427-, ABL+) holoprosencephaly, hypotelorism, downward slant to palpebral fissures, large nose with bulbous tip, microdolichocephaly, & large ears; low birth weight; growth & developmental delay; moderate to severe mental retardation; abnormal toes q36   LL07NC01-96-well-199b9/ LL07NC01-96-well-190c1   2624261, 1897576, 8485580, 8135290, 9254845 patient II-1 [2624261], 105 [8485580, 9254845], GM13687 (family 1637, affected sister) monosomy of 7q36-qter; daughter of 2624261_I-2; lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
178 984008_1 46, XY, der(7)t(2;7)(p23;q36) mat growth retardation, profound mental retardation, characteristic skeletal, facial, ocular and genital abnormalities, microcephaly q36       984008 case 1 monosomy of 7q36-qter; first cousin once removed of 984008_2 Edit
179 984008_2 46, XX, der(7)t(2;7)(p23;q36) mat growth retardation, profound mental retardation, characteristic skeletal, facial, ocular and genital abnormalities, epicanthal folds q36       984008 case 2 monosomy of 7q36-qter; first cousin once removed of 984008_1 Edit
180 8089961_2 46, XX, der(7)t(2;7)(q31;q36) mat stillborn, intrauterine growth retardation, frontonasal dysplasia, arrhinencephaly, other CNS abnormalities, pulmonary hypoplasia, cartilaginous deficiency of trachea and bronchus, severe tetralogy of Fallot, gastrointestinal tract anomalies, genitourinary tract anomalies, flexion contractures of joints with webbings q36       8089961, 8135290 case 2 monosomy of 7q36-qter; fatal blood sampling; mother and maternal grandmother had balanced t(2;7) Edit
181 6478645 46, XY, der(7)t(7;14)(q36;q24) mat growth retardation, developmental retardation, low birth weight, failure to thrive, feeble cry, hypertelorism, abnormal shape of the skull, Mongolian slant of the palpebral fissures, coloboma of choroidea and papilla in the left eye, prominent nose, narrow palate, micrognathia, low-set posteriorly-rotated ears q36       6478645, 8135290   monosomy of 7q36-qter; healthy mother had balanced t(7;14) Edit
182 6604490_2 46, XX, der(7)t(7;10)(q36;q25) de novo cleft palate and urogenital sinus, growth retardation, developmental retardation, severe psychomotor delay, neurogenic bladder, repeated urinary tract infection, speech delay, dysmorphic features, hypertelorism q36       6604490, 8135290 patient 2 (C.C) monosomy of 7q36-qter Edit
183 McGillivray_ASHG1978 46, X?, der(7)t(6;7)(p12;q36) pat severe growth retardation, microcephaly, short palpebral fissures, bilateral ptosis, long eyelashes, small mouth, retrognathia, congenital heart diseases, seizures q36       8135290 two siblings monosomy of 7q36-qter; father had balanced t(6;7); reported in McGillivrayet al., Am J Hum Genet. 1978; 30:59A Edit
184 6418421_IV-2 46, XY, der(7)t(4;7)(p12;q36) mat? growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, seizures, hyperactivity and aggressive behaviour, hypospadias q36       6418421, 8135290 patient IV-2 monosomy of 7q36-qter; brother of 6418241_IV-3, second cousin of 6418241_IV-4 and 6418241_IV-1; mother was considered to have balanced t(4;7) by pedigree Edit
185 6418421_IV-3 46, XY, der(7)t(4;7)(p12;q36) mat? growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, seizures, hyperactivity q36       6418421, 8135290 patient IV-3 monosomy of 7q36-qter; brother of 6418241_IV-2, second cousin of 6418241_IV-4 and 6418241_IV-1; mother was considered to have balanced t(4;7) by pedigree Edit
186 6418421_IV-4 46, XY, der(7)t(4;7)(p12;q36) mat growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, microcephaly, bilateral rocker bottom feet, malformed auricles, cryptorchidism q36       6418421, 8135290 patient IV-4 monosomy of 7q36-qter; second cousin of 6418241_IV-2, 6418241_IV-3 and 6418241_IV-1; mother and maternal grandmother had balanced t(4;7) Edit
187 6418241_IV-1 46, XY, der(7)t(4;7)(p12;q36) mat growth and mental retardation, triangular face, prominent glabella, hypotelorism, bulbous nose, high arch palate, short neck, scoliosis, long slender hands/feet, genu valgum, pes planus, microcephaly, bilateral rocker bottom feet, malformed auricles, hypospadias q36       6418421, 8135290 patient IV-1 monosomy of 7q36-qter; second cousin of 6418241_IV-2, 6418241_IV-3 and 6418241_IV-4; mother had balanced t(4;7) Edit
188 15844773 46, XY, der(7)t(7;8)(q36;q24.3) de novo pre- & postnatal growth retardation, neonatal feeding problems, developmental & mental retardation with non-verbal communication (at 6 years of age), microcephaly, large ears, narrow palpebral fissures with blepharoptosis, epicanthic folds, large depressed nasal bridge, bulbous nasal tip, right cryptorchidism, delayed bone age on X-rays q36       15844773   monosomy of 7q36-qter Edit
189 15264280_8 46, XY. ish der(7)t(7;11)(q36;p15.5)(7pSUBTEL-, D11S2071+) mat multiple congenital anomalies, growth retardation, severe mental retardation, cleft lip and palate, sacral agenesis with a tethered cord, hypospadias with chordee, feeding difficulties, failure to thrive, chronic otitis media, mild bilateral hearing loss, chronic upper respiratory tract infections, seizures, cortical visual impairment, microphthalmia, hypothyroidism, precocious puberty, bowel and bladder incontinence, blepharophimosis with horizontal palpebral fissures, distachiasis, absent nasal bridge, depressed nasal tip, cupped and protruding ears, depressed premaxillary region, malaligned teeth, flattened occiput, inferiolaterally displaced nipple, partial syndactyly of the hands, single transverse palmer creases, tapering fingers, distal finger contractures with decreased flexion creases, adducted thumbs, short palms, diffuse hypotonia, absent deep tendon reflexes q36       15264280 patient 8 monosomy of 7q36-qter; healthy mother with a history of three 1st trimester miscarriages had balanced t(7;11) and der(13;14) Edit
190 19838731_2 46 XX.arr 7q34q35(138,293,371–148,443,9 94)x3 de novo,7q36 (148,472,027–157,265,9 94)x1 de novo Currarino syndrome, pre- and post-natal growth impairment, microcephaly, hypoplastic inferior vermis, sensorineural deafness, sloping forehead, low-set hair, large ears, palpebral ptosis, hypotelorism, epicanthal folds, hypoplasic eyebrows, depressed nasal root, prominent maxilla, microretrognathia,t wo large maxillary central incisors, small hands, short thumbs, partial syndactyly of toes, hypotonia q36 q36     19838731 proband ~8.8MB deletion containing HLXB9; father has asymptomatic total posterior sacral canal schisis; proband’s sister has asymptomatic partial schisis of the sacrum canal Edit
191 22821890_2 46,XX,der(7)t(7;17)(q36;p13)mat.arr (7q36.2qter )x1, (17pterp13.1)x3 severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, narrow sloping forehead, down-slanting palpebral fissures, ptosis, exophthalmus, epicanthus of right eye, strabismus divergens, slightly prominent and overhanging nasal tip, broad nasal bridge, small nostrils, hypoplastic alae nasi, prognathism, short distal phalanges with poorly developed nails, bilateral syndactyly of the toes q36       22821890     Edit
192 Soylemez _ACMG2007 45,XY,der(15;22)(q10;q10),a dd(7)(q36).ish t(3;7)(p24;q36) de novo intrauterine growth retardation, mental retardation, premature craniosynostosis, microphthalmia, blepharophimosis, narrow forehead, bitemporal narrowing, large ears, cardiac defects, microcephaly, hypotonia q36         Soylemez et al., ACMG2007, Program #119 Edit
193 9350825 46, XX, der(7)t(7;19)(q36.1;q13.43). ish der(7)t(7;19)(D7S427-) pat severe sacral agenesis, intrauterine growth retardation q36.1       9350825   father: 46, XY, t(7;19)(q36.1;q13.43). ish t(7;19)(D7S427-;D7S427+) Edit
194 9555580_2 46, XY, der(7)t(5;7)(q35.2;q36.1) pat microcephaly, disproportionate growth retardation, truncal obesity, facial dysmorphism, single maxillary central incisor, mild holoprosencephaly q36.1   D7S688/ D7S1854   9555580 patient 2 monosomy of 7q36.1-qter; father is a carrier of a cryptic translocation Edit
195 9660061 46, XX, t(2;3)(p13.1;p13) mat, der(7)t(7;8)(q36.1;q24.13) pat absent left kidney, anal stenosis, vertebral abnormalitites, partial sacral agenesis, microcephaly, dysmorphic facial features, growth deficiency, developmental delay q36.1       9660061 SV monosomy of 7q36.1-qter; father had balanced t(7;8), and mother had balanced t(2:3) Edit
196 Numabe_2 46, XX, del(7)(q36.1q36.3) de novo sacral agenesis, pre- & postnatal growth retardation, speech delay, high forehead, bilateral macrotia, low nasal bridge, bulbous nose, high philtrum, thin lower lip, prognathism, constipation q36.1 q36.3 D7S483/ D7S798 D7S637/ D7S594 del(7)(q36.1q36.3) Numabe et al. - personal communication Edit
197 Pappas_ASHG2005_1 46, XX, del(7)(q36.2) [detected by FISH] microcephaly, growth retardation, GE reflux, mental retardation, hypertelorism, midface hypoplasia, malar hypoplasia, absent incisors, midline cleft palate, broad tip of the nose q36.2 qter     case 1 Pappas et al., ASHG 2005, Program #599 Edit
198 15200505_14 46, XX, der(7)t(1;7)(p36.31;q36.2) pat severe mental retardation, postnatal growth retardation, developmental delay, microcephaly, depressed nasal bridge, high-arched eyebrows, ptosis, bilateral coloboma, esotropia, prominent philtrum, cleft palate, downturned corners of mouth, low set ears, four finger line, short 5th toes, hypoplastic distal feet phalanges, patent ductus arteriosus, atrial septal defect, renal hypoplasia, chronic renal failure, dislocated anus, chronic constipation q36.2   RP11-422E4/ RP11-177P15   15200505 patient 14 monosomy of 7q36.2-qter; breakpoint at 7q lies at 4 Mb from the telomere; father had balanced t(1;7) Edit
199 22821890_1 46,XX,der(7)t(7;17)(q36;p13)mat.arr (7q36.2qter )x1, (17pterp13.1)x3 severe growth retardation, severe intellectual disability, hypoplasia of the corpus callosum, unilateral sacral hypoplasia, tethered cord, narrow sloping forehead, down-slanting palpebral fissures, ptosis, exophthalmus, epicanthus of right eye, strabismus divergens, slightly prominent and overhanging nasal tip, broad nasal bridge, small nostrils, hypoplastic alae nasi, prognathism, short distal phalanges with poorly developed nails, bilateral syndactyly of the toes q36.2 qter rs11543936/r s2316539   22821890   ~4.4Mb deletion Edit
200 15211664_2 46, XY. ish del(7)(q36.3q36.3)(D7S550-, G31340-) de novo growth delay (growth hormone deficiency), single maxillary central incisor, bulbous nasal tip, midface hypoplasia, strabismus convergens, ptosis, partial agenesis of the corpus callosum, hypoplasia of the pituitary gland [MRI] q36.3 q36.3     15211664 patient 2   Edit
201 15211664_4 46, XY. ish der(7)t(7;9)(q36.3;p24.1)(D7S550-, G31340-, D9S1681/ D9S1686/ D9S1813 mv) de novo growth and developmental delay, feeding difficulties, bilateral sensorineural hearing loss, speech delay, mild facial asymmetry, medial flare of eyebrows, sparse lateral eyebrow, broad nasal septum, short philtrum, cleft palate, unevenly spaced teeth, abnormal ears with dysplastic lobes, small tragus, muscular hypotonia, scoliosis q36.3       15211664, 15294281 patient 4 [15211664], patient 9 [15294281] monosomy of 7q36.3qter (deletion size > 3.6 Mb) Edit
202 McWalter_ACMG2008 46,XX.arr (7q36.3)x1 mat IUGR, deviated nasal septum, microcephaly, hypotelorism, left-sided ptosis, downslanting palpebral fissures, prominent nose and nasal bridge, growth deficiency, bilateral retinal coloboma q36.3 q36.3 SHH     McWalter et al., ACMG2008, Program #144, ~300Kb deletion Edit
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