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Unique ID | Karyotype | Phenotype | Cytogenetic Break From | Cytogenetic Break To | Molecular Breakpoint #1 | Molecular Breakpoint #2 | Pubmed ID | Patient ID | Comments |
| 1 |
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 |
| 2 |
3538996_PA13b | 46, XY, inv(7)(p22.2q21.13) de novo
| sterility
| p22.2 | q21.13 | | | 3538996 | PA13b | previously published elsewhere | Edit |
| 3 |
2309771_familyG_mother | 46, XX, inv(7)(p22.1q34) | phenotypically normal | p22.1 | q34 | | | 2309771 | family G, mother | mother of 2309771_familyG_infant | Edit |
| 4 |
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 |
| 5 |
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 |
| 6 |
9415687_father | 46, XY, inv(7)(p22q22) | phenotypically normal | p22 | q22 | | | 9415687 | father | | Edit |
| 7 |
10590434_father | 46, XY, inv(7)(p22q31.3) | phenotypically normal | p22 | q31.33 | | D7S490/ D7S686 | 10590434 | father | | Edit |
| 8 |
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 |
| 9 |
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 |
| 10 |
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 |
| 11 |
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 |
| 12 |
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 |
| 13 |
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 |
| 14 |
12810258_5516 | 46, XY, inv(7)(p22q21)
| meningioma, grade I
| p22 | q21 | | | 12810258 | T5516 | Mitelman Database, Reference No. 10151 | Edit |
| 15 |
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 |
| 16 |
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 |
| 17 |
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 |
| 18 |
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 |
| 19 |
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 |
| 20 |
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 |
| 21 |
11829489_5 | 46, XY, inv(7)(p14p21) | Russell-Silver syndrome | p21.3 - 21.2 | p14.1 | D7S513/ D7S507 | AC006023 | 11829489 | patient 5 | | Edit |
| 22 |
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 |
| 23 |
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 |
| 24 |
15039973_DD9707244 | 47, XY, inv(7)(p12.2p21.3) pat | phenotype not given; prenatal diagnosis was done | p21.3 | p12.2 | | | 15039973 | DD9707244 | | Edit |
| 25 |
15039973_DD9905387 | 46, XY, inv(7)(p15.2p21.3) mat | abnormal phenotype | p21.3 | p15.2 | | | 15039973 | DD9905387 | | Edit |
| 26 |
14654949_41 | 46, XY, inv(7)(p15or22q11or22). ish inv(7)(p21q21.3) [15] | T-cell acute lymphoblastic leukemia | p21.3 | p21 | | | 14654949 | 41 | | Edit |
| 27 |
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 |
| 28 |
Unpublished_25239 | 46, XX, inv(7)(p21.2;q22.1) | autism, psychosis | p21.2 | q22.1 | G248P8726D9 | RP11-110G9 | | 25239 | updated Nov/07 | Edit |
| 29 |
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 |
| 30 |
ECACC_95101903 | 46, XX, inv(7)(p21p15) | phenotype not given | p21 | p15 | | | | 95101903 (cell line: CC0166) | www.ecacc.org.uk; data unpublished | Edit |
| 31 |
8362388_2 | 46, XY, der(7)del(7)(p21)inv(7)(p13p21) | autism | p21 | p13 | | | 8362388, 9813777, 11733747 | | | Edit |
| 32 |
8527384_23_2 | 46, XX, der(7)del(7)(q21.3q31.3)inv(7)(p21q31.3) | uterine leiomyoma | p21 | q31.3 | | | 8527384 | 23 | | Edit |
| 33 |
8527384_16_2 | 46, XX, der(7)del(7)(q11.2q22)inv(7)(p21q32) | uterine leiomyoma | p21 | q32 | | | 8527384 | 16 | | Edit |
| 34 |
6944153_6 | 46, XY, inv(7)(p21q36) | acute myeloblastic leukemia - M2 | p21 | q36 | | | 6944153 | 6 | Mitelman Database, Reference No. 616 | Edit |
| 35 |
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 |
| 36 |
3538996_DI1a | 46, X?, inv(7)(p2109q11.200)
| stillbirth
| p21 | q11.2 | | | 3538996 | DI1a | | Edit |
| 37 |
3538996_RE1 | 46, XX, inv(7)(p2109q11.200)
| recurrent abortions
| p21 | q11.2 | | | 3538996 | RE1 | | Edit |
| 38 |
3538996_ST1 | 46, XY, inv(7)(p2109q11.200) pat
| phenotypically normal
| p21 | q11.2 | | | 3538996 | ST1 | father had same inversion | Edit |
| 39 |
3538996_TO1 | 46, XY, inv(7)(p2109q11.200)
| phenotypically normal
| p21 | q11.2 | | | 3538996 | TO1 | sister had trisomy 21, child had same inversion | Edit |
| 40 |
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 |
| 41 |
3538996_PA12a | 46, XY, inv(7)(p2100q2100)
| phenotypically normal; father of stillbirth
| p21 | q21 | | | 3538996 | PA12a | | Edit |
| 42 |
3538996_SE1a | 46, XY, inv(7)(p2100q2100)
| phenotypically normal; wife had recurrent abortions
| p21 | q21 | | | 3538996 | SE1a | | Edit |
| 43 |
3538996_SE1b | 46, XY, inv(7)(p2100q11.22) pat
| sterility
| p21 | q11.22 | | | 3538996 | SE1b | father had same inversion | Edit |
| 44 |
3538996_LY1 | 46, XY, inv(7)(p2100q11.22) mat
| leukemia
| p21 | q11.22 | | | 3538996 | LY1 | father and paternal half-brother had same inversion | Edit |
| 45 |
3538996_MA1 | 46, XY, inv(7)(p2100q3109)
| phenotypically normal; wife had recurrent abortions
| p21 | q31 | | | 3538996 | MA1 | | Edit |
| 46 |
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 |
| 47 |
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 |
| 48 |
8280871_father | 46, XY, inv(7)(p21q32)
| phenotypically normal
| p21 | q32 | | | 8280871 | father | | Edit |
| 49 |
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 |
| 50 |
15039973_DD9601631 | 46, XY, inv(7)(p15.1p21) | reproductive difficulties | p21 | p15.1 | | | 15039973 | DD9601631 | | Edit |
| 51 |
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 |
| 52 |
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 |
| 53 |
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 |
| 54 |
MCN_19970006-281 | 46, XY, inv(7)(p15.2q35) | Infertility | p15.2 | q35 | | | | MCN ID: 19970006-281 | www.mcndb.org | Edit |
| 55 |
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 |
| 56 |
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 |
| 57 |
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 |
| 58 |
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 |
| 59 |
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 |
| 60 |
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 |
| 61 |
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 |
| 62 |
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 |
| 63 |
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 |
| 64 |
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 |
| 65 |
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 |
| 66 |
8527384_10_2 | 46, XX, der(7)del(7)(q21q31)inv(7)(p15q32) | uterine leiomyoma | p15 | q32 | | | 8527384 | 10 | | Edit |
| 67 |
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 |
| 68 |
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 |
| 69 |
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 |
| 70 |
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 |
| 71 |
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 |
| 72 |
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 |
| 73 |
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 |
| 74 |
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 |
| 75 |
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 |
| 76 |
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 |
| 77 |
2002483_mother | 46, XX, inv(7)(p15q36)
| phenotypically normal
| p15 | q36 | | | 2002483 | mother | mother of 2002483_proband | Edit |
| 78 |
9029678 | 46, XX, inv(7)(p15q31)
| multiple recurrent abortions
| p15 | q31 | | | 9029678 | | | Edit |
| 79 |
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 |
| 80 |
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 |
| 81 |
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 |
| 82 |
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 |
| 83 |
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 |
| 84 |
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 |
| 85 |
15039973_DD7600800 | 46, XY, inv(7)(p15q22) pat | abnormal phenotype | p15 | q22 | | | 15039973 | DD7600800 | | Edit |
| 86 |
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 |
| 87 |
17039236_4 | 46, XX, inv(7)(p15q34) del(9)(p12p24) [29] | T-cell acute lymphoblastic leukemia | p15 | q34 | | | 17039236 | 4 | TCRβ-HOXA rearrangement (+) | Edit |
| 88 |
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 |
| 89 |
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 |
| 90 |
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 |
| 91 |
3376998_30F | 46, XX [13]/ 46, XX, inv(7)(p14q35) [1]
| multiple spontaneous abortion
| p14 | q35 | | | 3376998 | 30 year-old female | | Edit |
| 92 |
3538996_DI1b | 46, XY, inv(7)(p14q21.3)
| phenotypically normal; wife had recurrent abortions
| p14 | q21.3 | | | 3538996 | DI1b | | Edit |
| 93 |
3538996_CH1 | 46, XY, inv(7)(p14q21.3) mat
| abnormal phenotype
| p14 | q21.3 | | | 3538996 | CH1 | mother had same inversion | Edit |
| 94 |
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 |
| 95 |
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 |
| 96 |
3538996_ST2a | 46, XY, inv(7)(p14q11)
| phenotypically normal; wife had abortion
| p14 | q11 | | | 3538996 | ST2a | son had same inversion | Edit |
| 97 |
MCN_19850008-114 | 46, XY, inv(7)(p14q22.2) | ambiguous genitalia | p14 | q22.2 | | | | MCN ID: 19850008-114 | www.mcndb.org | Edit |
| 98 |
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 |
| 99 |
8527384_24_2 | 46, XX, der(7)del(7)(q21q31)inv(7)(p13q31) | uterine leiomyoma | p13 | q31 | | | 8527384 | 24 | | Edit |
| 100 |
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 |
| MORE |
