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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 | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 | ||
| 101 | 3385745_mother | 46, XX, inv(7)(p13q22) | phenotypically normal; son with same inv(7) had lethal type II osteogenesis imperfecta | p13 | q22 | 3385745, 2738906 | mother, GM09324 | GM09324: fibrablast, finite (primary) cell line from CCR NIGMS Human Genetic Cell Repository | Edit | ||
| 102 | 8317486 | 46, XY, inv(7)(p13q36) mat? | phenotypically normal; wife had one normal child and five first-trimester spontaneous abortions | p13 | q36 | 8317486 | MCN ID: 19930006-999 | first cousin (daughter of maternal uncle) and her daughter carried same inversion; www.mcndb.org | Edit | ||
| 103 | 6235485_lab39 | 46, XX, inv(7)(p13q11) mat, t(6;18)(q24;q23) pat | phenotype not given | p13 | q11 | 6235485 | balanced autosomal rearrangement from lab 39 | amniocentesis | Edit | ||
| 104 | 6235485_lab46_inv(7) | 46, X?, inv(7)(p13q11) mat | phenotype not given | p13 | q11 | 6235485 | balanced autosomal rearrangement from lab 46 | amniocentesis | Edit | ||
| 105 | ECACC_2062018 | 46, XX, inv(7)(p13q11.23) de novo | phenotype not given | p13 | q11.23 | 2062018 (cell line: DD3716) | www.ecacc.or.uk | Edit | |||
| 106 | MCN_19970011-281 | 46, XY, inv(7)(p13q21) de novo | spasticity/rigidity/hypertonia/b risk reflexes, mental retardation, terminal broadening fingers/clubbing | p13 | q21 | MCN ID: 19970011-281 | www.mcndb.org | Edit | |||
| 107 | MCN_19870001-089 | 46, XX, inv(7)(p13q22) pat | mental retardation, microcephaly, other cardiovascular defect | p13 | q22 | MCN ID: 19870001-089 | www.mcndb.org | Edit | |||
| 108 | 3983641_2_2 | 46, XX, t(7;7)(p13;q35)/ 47, XX, -14, +t(14;14)(q11;q11), +t(14;14)(q11;q11), 46, XX, t(7;14)(p13;q11), 46, XX, inv(7)(p13q35)/ 46, XX, t(7;14)(q35;q11)/ 46, XX, t(14;14)(q32;q11) | ataxia telangiectasia | p13 | q35 | 3983641 | case 2 | Edit | |||
| 109 | 7411307_2 | 46, XY, inv(7)(p13q32) [1]/ other aberration(s) [8]/ 46, XY [94] [age 7] | ataxia telangiectasia | p13 | q32 | 7411307 | 2 | brother of 7411307_1 | Edit | ||
| 110 | 7411307_3_2 | 46, XY, inv(7)(p13q32) [3]/ 46, XY, t(7;14)(p13;q11) [1]/ other aberration(s) [4]/ 46, XY [42] [age 8] | ataxia telangiectasia | p13 | q32 | 7411307 | 3 | Edit | |||
| 111 | 2981155_Jha | 45, X, -Y, der(3)t(3;14)(q12;q13), t(6;8)(q25;q22), inv(7)(p13q22), der(11)t(3;11)(q13;p15), -14, del(14)(q24), del(15)(q22), del(18)(q22), -19, +2mar/ 46, XY, del(2)(q23), add(3)(p?), add(4)(q?), del(9)(q22), -11, del(14), -15, +2mar | Wilms tumor | p13 | q22 | 2981155 | J. Ha | Mitelman Database, Reference No. 1242 | Edit | ||
| 112 | 1878594_2 | 46, XY, inv(7)(p13q36) | T cell acute lymphoblastic leukemia - L1 | p13 | q36 | 1878594 | 2 | Mitelman Database, No. 4010 | Edit | ||
| 113 | 15588849_3_2 | 43-44, XY, dic(1;11)(q10;p11), der(3;19)(q10;q10), ins(4;?)(p14;?), del(6)(q15), i(6)(p10), +i(6)(q10), i(8)(q10), -11, -12, der(13;14)(q10;q10), -14, del(16)(q13), -17, -18, -19, -21, +der(?)t(?;1)(?;p22), +1-2mar [cp26]/ 45, Y, add(X)(q13), del(1)(p13), der(1)t(1;7)(q44;p15), t(2;9)(p11;q34), der(7)t(1;7)(p13;p13), der(13)t(13;14)(p11;q13), -14/ 45, XY, t(11;18)(q23;q21), t(12;16)(q11;p11), der(13)t(13;14)(p11;q13), -14 [8] [primary tumor] 40-44, XY, dic(1;11), der(3;19), ins(4;?), del(6), i(6)(p10), +i(6)(q10), i(8)(q10), -11, -12, der(13;14), -14, del(16), -17, -18, -19, -21, +der(?)t(?;1), +1-2mar [cp15]/ 46, X, t(Y;6)(q12;q21), t(1;7)(p36;p15), add(5)(p13), inv(7)(p13q36), t(8;9)(q22;q34), del(10)(p13), add(11)(p15), t(12;19)(q15;q13) [26] [local recurrence] | squamous cell carcinoma of the tongue | p13 | q36 | 15588849 | 3 | Mitelman Database, Reference No. 10815 | Edit | ||
| 114 | 16382447_1_2 | 46, XY, i(7)(q10) [12]/ 46, XY [8] [Nov/99, BM] 46, XY, i(7)(q10) [21]/ 46, XY [14] [Jul/00, BM] 46, XY, inv(7)(p13q21) [7]/ 46, XY [143] [Jul/00, PB-PHA] 46, XY, i(7)(q10) [20]/ 46, XY [10] [Jul/01, BM] 46, XY [158] [Jul/01, PB-PHA] 46, XY [50] [Jun/02, Skin] | Shwachman syndrome (without MDS/AML) | p13 | q21 | 16382447 | UPN 1 | SBDS mutation (+) | Edit | ||
| 115 | 15039973_DD0200787 | 46, XX, inv(7)(p13q11.23) de novo | abnormal phenotype | p13 | q11.23 | 15039973 | DD0200787 | Edit | |||
| 116 | 15039973_DD8604904 | 46, XX, inv(7)(p13q22) mat | phenotype not given; prenatal diagnosis was done | p13 | q22 | 15039973 | DD8604904 | Edit | |||
| 117 | 8418369_49_1 | 46, XY, der(5)t(5;7)(q12;q32), der(7)inv(7)(p13q32)t(5;7) | acute lymphoblastic leukemia - L1 | p13 | q32 | 8418369 | 49 | Mitelman Database, Reference No. 4743 | Edit | ||
| 118 | Maloney_ESHG2005_1 | 46, XX, inv(7)(p13q11.23) de novo | short palpebral fissures, overlapping fingers, feeding difficulties | p12.3 | q11.23 | RP11-21H20/ RP4-815D20 | RP11-575M4 | first patient, 2-month-old female | AUTS2 may be disrupted; Maloney et al., ESHG, 2005, #P0367 | Edit | |
| 119 | 10893502_1 | 46, XY, inv(7)(p12.2q31.3) de novo | autism | p12.2 | q31.3 | CFTR/ D7S643 | 10893502 | case 1 (III:3) [10893502], ECACC No. 82411 (cell line: BD2963) | maternal uncle (II:1) had Asperger syndrome; first cousin (III:1) had specific disorders of speech and language (SDDSL); www.ecacc.org.uk | Edit | |
| 120 | Unpublished_17298 | 46, XY, inv(7)(p12p22) | unknown phenotype | p12 | p22 | 17298-AFC | data unpublished | Edit | |||
| 121 | 2606480 | 46, XX, inv(7)(p12q11.23) de novo | Zellweger syndrome; hypotonia, high and bossed forehead, wide anterior fontanel, narrow palpebral fissures, short nose with depressed nasal bridge, malformed large ears, micrognathia, heart defects | p12 | q11.23 | 2606480 | Edit | ||||
| 122 | 7449183_2 | 46, XX, t(X;3;7;21)(Xpter-> q27::3p11-> pter; 3p11-> q12::7q21-> qter; 7pter-> p12::q21-> 3q12-> qter; Xq28::21q21-> p12::q21->qter) de novo | mental retardation, brachycephalic, flat facies, low-set incompletely outfolded ears, depressed nasal bridge, shortened uvula, four toes on the right foot, severe psychomotor delay, mild generalized hypotonia | p12 | q21 | 7449183 | GD, MCN ID: 19800001-999 | www.mcndb.org | Edit | ||
| 123 | 6392555_1 | 46, XY, inv(1)(q25q42), inv(7)(p12q31.2) pat | floppy baby with cerebral palsy | p12 | q31.2 | 6392555 | case 1 [6392555] | father and sister carried both inversions | Edit | ||
| 124 | 3538996_ST2b | 46, X?, inv(7)(p12q35) de novo | abnormal phenotype | p12 | q35 | 3538996 | ST2b | Edit | |||
| 125 | Unpublished_14822 | 46, XX, inv(7)(p13q32) | difficulties with visual, fine perception and gross motor skills | p11.2 | q32 | RP11-832H18 | RP11-617C20 | 14822 | data unpublished; RP11-617C20***SEQUENCING IN PROGRESS***; molecular cytogenetic data is not consistent with karyotype | Edit | |
| 126 | 12384779_AG | 46, XY, inv(7)(p11.2q11.21) | Russell-Silver syndrome | p11.2 | q11.21 | D7S1618/ D7Z2 | D7Z1/ sWSS3627 | 12384779 | AG | Edit | |
| 127 | 12384779_AM | 46, XX, inv(7)(p11.2q22) | post-natal growth retardation | p11.2 | q22 | D7S1618/ GDB:1317186 | D7S477/ D7S518 | 12384779 | AM | Edit | |
| 128 | 12384779_PW | 46, inv(7)(p11.2q36) | post-natal growth retardation | p11.2 | q36 | D7S1618/ D7Z2 | 12384779 | PW | Edit | ||
| 129 | MCN_19890002-293 | 46, XY, inv(7)(p11.2q11.23) | mental retardation, broad nasal bridge, anotia/microtia, optic nerve abnormality/a trophy | p11.2 | q11.23 | MCN ID: 19890002-293 | www.mcndb.org | Edit | |||
| 130 | 8618441_16_1 | 43, X, dic(?Y;16)(q11;q13), -5, der(7)inv(7)(p11q22)del(7)(q22q32), -12, der(15)t(15;17?)(p11;q21), add(19)(p13), -20, +mar | myelodysplastic syndrome - refactory anemia with excess of blasts | p11 | q22 | 8618441 | 16 | Mitelman Database, Reference No. 6617 | Edit | ||
| 131 | MCN_19960001-023 | 46, XX, inv(7)(p11q12) | precocious puberty, generalised obesity | p11 | q12 | MCN ID: 19960001-023 | www.mcndb.org | Edit | |||
| 132 | 9552025_23 | 46, XY, inv(7)(p11q32), t(11;14)(p13;q11) | acute lymphoblastic leukemia | p11 | q32 | 9552025 | 23 | Mitelman Database, Reference No. 7566 | Edit | ||
| 133 | 15039973_DD8202794 | 46, XX, inv(7)(p11q22) pat, inv(1)(q25q42) pat | abnormal phenotype | p11 | q22 | 15039973 | DD8202794 | Edit | |||
| 134 | Unpublished_99PB451 | 46, XY, add(1)(p32), del(5)(q?), inv(7), add(11)(q23), add(16)(p11), add(17)(p11) | acute lymphoblastic leukemia | pter | qter | TCRB | 99PB451 | data unpublished | Edit | ||
| 135 | Unpublished_14010 | inv(7) [paracentric inversion] | polycystic kidney disease | pter | qter | 14010 | data unpublished | Edit | |||
| 136 | 10469450_166 | 46, XY, inv(7)(?), t(12;14)(q15;q24) [19] | pulmonary chondroid hamartoma | pter | qter | 10469450 | 166 | Mitelman Database, Reference No. 8134 | Edit | ||
| 137 | 10451701_3 | 47, X, der(Y)t(Y;12)del(Y), der(5;15)t(5;7)(q11;q33)t(7;15)(q33;q13), der(7)t(7;15)(q22;q22.3)del(7)(q22q33)del(15)(q13q22.3), inv(7)x2, der(8)trp(8)ins(8;11)dup(11), + dup(8), +der(11)dup(11)t(8;11)trp(8), der(11)t(11;17), der(12)t(7;12)(q33;p11.2)del(12)(p11.2p13), +13, -15, -17 | acute myeloblastic leukemia - M1 | pter | qter | 10451701, 10398433 | cell line GF-D8 [10451701], 6 [10398433] | Mitelman Database, Reference No.7989 | Edit | ||
| 138 | 6609770_34 | 46, XX, inv(7)(p?) [100%] | acute myeloid leukemia | pter | p10 | 6609770, 9973943 | 34 [6609770] | Mitelman Database, Reference No. 1103 | Edit | ||
| 139 | 3965107_3 | 46, XX, inv(3)(q21q26), inv(7?), t(9;22)(q34;q11), del(15)(q22) [31] [blast crisis} 46, XX, inv(3)(p?q?), del(G) [20]/ 46, XX [3] [chronic phase] | chronic myeloid leukemia | pter | qter | 3965107, 1581880 | patient 3 [3965107], MPD-1 [1581880, Appendix 2] | Edit | |||
| 140 | 16382447_13 | 46, XY [21] [Jun/03, BM] 46, XY [100] [Jun/03, PB-PHA] 46, XY [12] [Jun/04, BM] 46, XY [100] [FISH indicated inv(7)] [Jun/04, PB-PHA] | Shwachman syndrome (without MDS/AML) | pter | qter | 16382447 | UPN 13 | SBDS mutation (-) | Edit | ||
| 141 | 9439652_LC4_2 | 46, XY, t(5;9)(q22.1;p22), t(7;18)(p14;q21)inv?(7q) [revised based on SKY] | dysmorphic features, developmental delay | q10 | qter | 9439652 | case LC4 | Edit | |||
| 142 | 3721507 | 46, XY, inv(7)(q11q22) pat | phenotype not given | q11 | q22 | 3721507, 3546078, 7717416 | fetus [3721507], reference 73 [7717416] | father and grandfather carried the same inversion | Edit | ||
| 143 | 7346813 | 46, XX, inv(7)(q11q22) pat | phenotypically normal; spontaneous miscarriages in 3/7 pregnancies | q11 | q22 | 7346813, 6392555, 4040824, 3491573, 3546078, 7717416 | II-11 [7346813], reference 22 [6392555], ref 27 [3491573], reference 63 [7717416] | father had same inversion | Edit | ||
| 144 | 6576176 | 46, XX, inv(7)(q22q11) pat | acute lymphoblastic leukemia | q11 | q22 | 6576176, 6392555, 4040824, 3491573, 3546078, 7717416 | reference 23 [6392555], ref 21 [3491573], reference 72 [7717416] | Edit | |||
| 145 | 3770747 | 46, XX, inv(7)(q11q22) [86%]/ 45, X, inv(7)(q11q22) [14%] | Turner syndrome: hypoplastic genitalia, irregular menstruation, mental development delay; seizure disorder | q11 | q22 | 3770747, 7717416 | case 8 | mother carried same inversion | Edit | ||
| 146 | 6392555_4 | 46, XY, inv(7)(q11q22) mat | undescended testis | q11 | q22 | 6392555, 3491573, 3770747, 3546078, 7717416 | case 4 [6392555], ref 19 [3491573], case 7 [3770747], reference 10 [7717416] | mother, maternal uncle, half brother and half sister carried same inversion and were all unaffected | Edit | ||
| 147 | 6463033_UK16 | 4?, X?, inv(7)(q11q22) | phenotype not given | q11 | q22 | 6463033, 7717416 | lab UK16 [6463033] | prenatal diagnosis | Edit | ||
| 148 | 6235485_lab48 | 46, XX, inv(7)(q11q22) pat | phenotype not given | q11 | q22 | 6235485, 7717416 | balanced autosomal rearrangement from lab 48 [6235485] | amniocentesis | Edit | ||
| 149 | ECACC_89041152 | 46, XY, inv(7)(q11q34) | phenotype not given | q11 | q34 | 89041152 (cell line: HH0107) | www.ecacc.or.uk | Edit | |||
| 150 | 3479040_BDI40612 | 46, XX, inv(7)(q11q36) pat | phenotype not given | q11 | q36 | 3479040, 7717416 | BDI 40612 | amniocentesis was performed due to advanced maternal age | Edit | ||
| 151 | 8309255 | 46, XY, t(3;17)(q21;q23), inv(7)(q11q22) | acute myelomonocytic leukemia - M4 | q11 | q22 | 8309255, 9973943 | Mitelman Database, Reference No. 5350 | Edit | |||
| 152 | 6583316_16 | 46, XY, inv(7)(q11q32) | chronic myelomonocytic leukemia | q11 | q32 | 6583316, 9973943 | 16 [6583316] | Mitelman Database, Reference No. 1056 | Edit | ||
| 153 | 15039973_DD7501747 | 46, XY, inv(7)(q11q22) mat | abnormal phenotype | q11 | q22 | 15039973 | DD7501747 | Edit | |||
| 154 | 3491573_NI1a | 46, XY, inv(7)(q11.1q33) | mental retardation | q11.1 | q33 | 3491573, 7717416 | NI1a | Edit | |||
| 155 | 9512227_C96/249 | 46, XY, inv(7)(q11.2q22) pat | severe oligoasthenzoospermia, infertility - undergoing ICSI | q11.2 | q22 | 9512227, 10469691 | C96/249; MCN ID: 19960003-102 | www.mcndb.org | Edit | ||
| 156 | 9209470_II-1 | 46, XY, inv(7)(q11.2q22)c | acute lymphoblastic leukemia | q11.2 | q22 | 9209470 | II-1 (case 2) | unaffected mother had the same karyotype | Edit | ||
| 157 | 9209470_III-4 | 46, XY, inv(7)(q11.2q22)c | idiopathic thrombocytopenia | q11.2 | q22 | 9209470 | III-4 | son of 9209470_II-2 | Edit | ||
| 158 | 9209470_II-2 | 46, XX, inv(7)(q11.2q22)c | acute myelomonocytic leukemia | q11.2 | q22 | 9209470 | II-2 (case 1) | Edit | |||
| 159 | 3546078_inv(7)(q11.2q22) | 4?, X?, inv(7)(q11.2q22) mat | phenotype not given | q11.2 | q22 | 3546078, 7717416 | prenatal diagnosis | Edit | |||
| 160 | MCN_19890002-032 | 46, XX, inv(7)(q11.2q22) | small hand, simian creases, broad foot, short foot (including brachydactyly), low set ears | q11.2 | q22 | MCN ID: 19890002-032 | www.mcndb.org | Edit | |||
| 161 | 2340493_34 | 46, XX, ?inv(5) / 47, XX, +inv(7)(q11.2q32) / 47, idem, del(9)(q13)/ 46, XX [18/25] | breast cancer | q11.2 | q32 | 2340493 | MaCa 34 | Mitelman Database, Reference No. 3377 | Edit | ||
| 162 | 2340493_39 | 47, XX, +inv(7)(q11.2q32) [1]/ 49, X -?X, +inv(7), +8, +9 [1]/ 46, XX [16] | breast cancer | q11.2 | q32 | 2340493 | MaCa 39 | Mitelman Database, Reference No. 3377 | Edit | ||
| 163 | 7160842_1 | 46, XX, dup(7)(q11.22q11.23)inv(7)(q11.23q22) mat | huge head, left sided anopththalmia, high arched palate, excessive hydrocephalus with almost inappreciable brain substance, genital anomalies | q11.23 | q22 | 7160842, 6392555, 4040824, 3491573, 3546078, 7717416 | N.S. [7160842], ref. 21 6392555] | mother had inv(7) | Edit | ||
| 164 | 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 |
| 165 | 11685205_12503 | 46, XX. WBSinv-1 [de novo, detected by FISH] | Williams syndrome: WBS facies, malocclusion, strabismus, joint tightness, hypersensitivity to sound, WBS-like behavior profile, developmental delay | q11.23 | q11.23 | D7S672/ D7S2479 | D7S1870/ D7S715 | 11685205 | 12503 | Edit | |
| 166 | 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 | |
| 167 | Unpublished_17430 | 46, XY. WBS INV-II | anxiety disorder | q11.23 | q11.23 | D7S613/ D7S1870 | D7S2490/ D7S1440 | 12690205 | 17430 | daughter was diagnosed with Williams syndrome | Edit |
| 168 | 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 |
| 169 | Unpublished_18921 | 46, XY [possible inversion] | phenotypically normal | q11.23 | q11.23 | 18921 | 15 expected, 4 inv-I, 4 inv-II; father of Unpublished_18920; data unpublished | Edit | |||
| 170 | Unpublished_18920 | 46, XY [possible inversion] | Williams syndrome | q11.23 | q11.23 | 18920 | 17 expected, 6 INV-I, 4 INV-II; son of of Unpublished_18921; data unpublished | Edit | |||
| 171 | Unpublished_63 | 46, XX, WBS INV-II | Williams Syndrome | q11.23 | q11.23 | 63 | data unpublished | Edit | |||
| 172 | 10987644 | 46, X?, inv(7)(q11.23q21.2) de novo | phenotype not given | q11.23 | q21.2 | 10987644 | aborted fetus at 19 weeks | Edit | |||
| 173 | 10710222_2 | 46, XX, t(6;7)(q27;q11.23) de novo. WBSinv-1 [pat, detected by FISH] | atypical Williams syndrome, severe cardiovascular manifestations, died shortly after birth | q11.23 | q11.23 | D7S672/ D7S2479 | D7S1870/ D7S715 | 10710222, 11685205 | 11719 [11685205] | healthy father (11976) had WBSinv-1; inversion breakpoints occurred within duplicons | Edit |
| 174 | MCN_19930001-015 | 46, XY, inv(7)(q11.23q22.2) | coats disease, mental retardation, muscle weakness/myopathy, hearing abnormal congenital/a cquired | q11.23 | q22.2 | MCN ID: 19930001-015 | www.mcndb.org | Edit | |||
| 175 | MCN_19900004-029 | 46, XX, inv(7)(q11.23q22) | small hand, short neck, epicanthic folds, generalised obesity, short stature - postnatal | q11.23 | q22 | MCN ID: 19900004-029 | www.mcndb.org | Edit | |||
| 176 | MCN_19980001-249 | 46, XY, inv(7)(q11.23q22) | mental retardation, small/atrophic testes | q11.23 | q22 | MCN ID: 19980001-249 | www.mcndb.org | Edit | |||
| 177 | MCN_19880001-035_2 | 46, XX, t(7;13)(q11.23;q14.3), inv(7)(q11.23q21.1) de novo | ptosis, epicanthus inversus, abnormal ear shape/structure, other eye globe abnormalities, low set ears, short stature - postnatal | q11.23 | q21.1 | MCN ID: 19880001-035 | www.mcndb.org | Edit | |||
| 178 | 11685205_8580 | 46, XY. WBSinv-1 [detected by FISH] | phenotypically normal; father of WBS patient with common deletion | q11.23 | q11.23 | 11685205 | 8580 | father of unpublished_8579 | Edit | ||
| 179 | 11685205_11107 | 46, XX. WBSinv-1 [detected by FISH] | phenotypically normal; mother of WBS patient with common deletion | q11.23 | q11.23 | 11685205 | 11107 | mother of 11685205_11106 | Edit | ||
| 180 | 11685205_9619 | 46, XX. WBSinv-1 [detected by FISH] | phenotypically normal; mother of WBS patient with common deletion | q11.23 | q11.23 | 11685205 | 9619 | mother of unpublished_9618 | Edit | ||
| 181 | 11685205_9912 | 46, XX. WBSinv-1 [detected by FISH] | phenotypically normal; mother of WBS patient with common deletion | q11.23 | q11.23 | 11685205 | 9912 | mother of unpublished_ | Edit | ||
| 182 | 16470794_2 | 46, XX, del(7)(q31.2q32.2)(D7S486-, D7S522-) de novo, WBS inv-2 | speech-language disorder (developmental verbal dyspraxia), autism-like, dysmorphic features, mild developmental delay, unable to cough/sneeze/l augh spontaneously | q11.23 | q11.23 | LIMK1/ CYLN2 | HIP1/ POR$ | 16470794, 17033973 | 13583; patient 4 [17033973] | phenotypically normal father was mosaic for WBS inv-2; paternal first cousin had WBS with standard 7q11.23 microdeletion; Zeesman et al., ASHG2004, Program #738 | Edit |
| 183 | 457116_2 | 45, X, inv(7)(q11.3q22.3) pat | amenorrhea, recurrent otitis in childhood, amblyopic, manifest otosclerosis, Turner's syndrome | q11.3 | q22.3 | 457116, 6392555, 4040824, 3491573, 3546078 | case 2 [457116], Reference 19 [6392555], ref 4 [3491573] | unaffected father and half-brother had same inversion | Edit | ||
| 184 | 6463033_F13 | 4?, X?, inv(7)(q11.3q22.3) | phenotype not given | q11.3 | q22.3 | 6463033, 7717416 | lab F13 [6463033] | prenatal diagnosis | Edit | ||
| 185 | 3733076_15 | 46, XY, inv(7)(q11.23q22.1) mat | reproductive failure | q11.3 | q22.1 | 3733076, 7717416 | proband, family 15 [3733076] | mother, brother, and maternal uncle carry same inversion | Edit | ||
| 186 | 7126479_A21 | 46, XY, del(5)(q13q31) [6]/ 46, XY, inv(7)(q13q32) [9]/ 46, XY [85] | myelodysplastic syndrome | q13 | q32 | 7126479, 9973943 | A21 | Mitelman Database, Reference No. 848 | Edit | ||
| 187 | 12393284_ST95-479_2 | 46, XX, del(7)(q22q32)/ 46, XX, inv(7)(q21q22) | uterine leiomyomata | q21 | q22 | 12393284 | ST95-479 | Edit | |||
| 188 | 6392555_5 | 46, XY, inv(7)(q21q32) mat | phenotype not given | q21 | q32 | 6392555, 3491573, 3770747, 3546078, 7717416 | case 5 [6392555], ref 19 [3491573], case 10 [3770747], reference 10 [7717416] | mother carried same inversion | Edit | ||
| 189 | McDermott_inv(7)(q21q22) | 4?, X?, inv(7)(q21q22) | phenotype not given | q21 | q22 | 3546078 | reported in Repository of chromosomal variants, Borgaonkar et al., 1983 | Edit | |||
| 190 | 6463033_UK17 | 4?, X?, inv(7)(q21q32) | phenotype not given | q21 | q32 | 6463033, 7717416 | lab UK17 [6463033] (two cases) | prenatal diagnosis | Edit | ||
| 191 | 3491573_RO2 | 46, XY, inv(7)(q21q22.2) mat | systematic | q21 | q22.2 | 3491573, 7717416 | RO2 | mother, maternal father, and sister had same inversion | Edit | ||
| 192 | 3491573_BO2 | 46, XX, inv(7)(q21q22.2) pat | malformations | q21 | q22.2 | 3491573, 7717416 | BO2 | father had same inversion | Edit | ||
| 193 | 6235485_lab50 | 46, XY, inv(7)(q21q32) | phenotype not given | q21 | q32 | 6235485, 7717416 | balanced autosomal rearrangement from lab 50 [6235485] | amniocentesis was done because of maternal age | Edit | ||
| 194 | MCN_19850023-999 | 46, XY, inv(7)(q22q21) | infertility | q21 | q22 | MCN ID: 19850023-999 | www.mcndb.org | Edit | |||
| 195 | 3476188_1 | 46, XY, del(11)(p12p15) [100%] [first relapse] 46, XY, inv(7)(q21q36), del(11)(p12p15) [80%]/ 46, idem, t(11;17)(q13;q25) [20%] [second relapse] | acute myelomonocytic leukemia - M4 | q21 | q36 | 3476188, 9973943 | 1 [3476188] | Mitelman Database, Reference No. 2168 | Edit | ||
| 196 | 15039973_DD7802371 | 46, XY, inv(7)(q21q32) mat | phenotype not given; prenatal diagnosis was done | q21 | q32 | 15039973 | DD7802371 | Edit | |||
| 197 | MCN_19940001-254 | 46, XX, inv(7)(q21.1q22.2) mat | teratoma/ hamartoma | q21.1 | q22.2 | MCN ID: 19940001-254 | www.mcndb.org | Edit | |||
| 198 | Movotna_ESHG2005_1 | 46, XY, inv(7)(q21.2q36) de novo | ectrodactyly (both hands & feet) | q21.1 | q36 | first patient, 6.5-year-old boy | normal twin bother had normal karyotype; mother had a low frequency mosaic for trisomy X; Movotna et al., ESHG, 2005, #P0339 | Edit | |||
| 199 | 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 | |||
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