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

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient 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
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