The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- INSERTIONS OF CHROMOSOME 7

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 2842036_GOS21_2 45, XY, ins(1;7)(q32;p12p22), i(7)(q10), -17 Wilms tumor p22 p12     2842036 GOS 21 Mitelman Database, Reference No. 2595 Edit
2 1623626_2 46, XX, ins(7)(p22.1p21.4q36.1) mat had three first trimester miscarriages and one second trimester intrauterine death p21.4 q36.1     1623626 proband mother, sister, maternal uncle and cousins have same insertion Edit
3 11280950_mother_2 46, XX, ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) healthy mother; two of five pregnancies were miscarried, one infant died at 2 days of age with coarctation of the aorta, one son was healthy. The last offspring was a daughter with craniofacial dysmorphism and mental retardation p21.3 p12.2 D7S589/ AC002124   11280950 mother D7S589 is not in this database Edit
4 11280950_patient 46, XX, der(2)ins(2;7)inv(7)(2pter-> 2q32.2::7p12.2-> 7p21.3::2q32.2-> 2qter;7pter-> 7p21.3::7q21.2-> 7p12.2::7q21.2-> 7qter) mat [inferred] mental retardation, long facies, hypertelorism, down-slanting palpebral fissures, prominent nasal bridge, large nose with columnella and nasal tip extending beyond hypoplastic ears, high narrow palate, micrognathia, hyperlaxity of elbows and interphalangeal joints, small dysplastic nails p21.3 p12.2     11280950 patient trisomy of 7p12.2-p21.3; daughter of 11280950_mother Edit
5 11303510 46, XY, der(8)ins(8;7)(p23.1;p21p13) de novo delayed closure of larger anterior fontanelle, mental retardation, cardiac septal defect, long face, low-set ears, long nose with broad nasal bridge, bushy eyebrows, mild ptosis of eyelid, convergent strabismus, hypertelorism, deep and short philtrum, thin upper lip, small mouth, high arched and narrow palate, bifid uvula, kyphoscoliosis, thin ribs p21.2 p13 D7S664/ D7S2557   11303510   trisomy of 7p21.1-p13 (including the TWIST, HOXA, GLI3) Edit
6 539602_mother_1 46, XX, ins(7)(q22p15p21) mat phenotypically normal p21 p15     539602 mother (ll-15) mother of 539602_1 Edit
7 11066076_5_3 47, XY, t(7;12)(q36;p13), +der(19) [3 mo]
49, XY, ins(7)(p11p15q34?), +8,+19,+22 [12 mo, relapse]
acute myeloblastic leukemia - M0 p15 q34     11066076, 12939747 5 [11066076], 3 [12939747] Mitelman Database, Reference No. 8756 Edit
8 9797774_4_1 45, XX, del(5)(q13q33), -7, der(8)ins(8;7)(p11;?p11) refractory anemia with excess of blasts in transformation p11 ?     9797774 4 Mitelman Database, Reference No. 7722 Edit
9 Unpublished_57 4?, X?, ins(5;7)(?;?) agenesis of corpus callosum, VSD, rotatory scoliosis, radioulnar synostosis, cervical rib, huge inguinal hernias, small phallus, unusual pigmented retinal epithelium, moderately neurologically impaired pter qter     57 data unpublished Edit
10 11694401_13_1 50, XX, +der(3)del(3)(p?)del(3)(q?)x5, der(5)t(5;14)(q22;q22), -7, der(14)del(14)(q22)ins(14;7)(q1?;?)/ 51, idem, del(9)(p11), +del(9)(q11) acute myelomonocytic leukemia - M4 pter qter     11694401 13 Mitelman Database, Reference No. 9666 Edit
11 11694401_15_2 46, XY, dup(3)(q24q2?9), del(5)(q15q33), der(7)t(7;8)(q3?1;?), der(8)qdp(8)(p12p2?)trp(8)(q1?q21), t(9;12)(p21;p13), ins(12;7)(q21;?), der(16)t(11;16)(q21;q21) acute myeloblastic leukemia - M1 pter qter     11694401 15 Mitelman Database, Reference No. 9666 Edit
12 15190256_31_1 46, XY, t(9;22) [13]/ 46, XY [4] [before Cx]
45, XY, -7, der(17)ins(17;7)(p?;?) [12]/ 46, XY [12] [8 mo after Cx]
chronic myeloid leukemia pter qter     15190256 31 Mitelman Database Reference No. 10684 Edit
13 11455985_7_3 41, der(X)t(X;16)(q22;q22), der(Y)t(Y;15)(q11;q?), der(5)t(5;12)(q31;q13), der(7)t(7;15)(q11;q?), inv(11)(p13q23), -12, der(13;15)t(Y;15)(q11;q15)t(Y;13)(q12;p11)t(13;20)(q21; q?12), -15, der(15)t(15;21)(p11;q11), -16, der(16)t(5;16)(q?33;p13), der(17)t(16;17)(q?;p13)t(X;16)(q22;q?22), der(19)ins(19;7)(p13.1;q?)t(7;19)(q22;p13.3), -20, -21, i(21)(q10) [6] / 41, idem, der(15)t(7;15)(q?;q11), +19, -der(19), -i(21)(q10), +21 [2] acute myelomonocytic leukemia - M4 q10 qter     11455985 7 Mitelman Database, Reference No. 9187 Edit
14 9797774_5_1 45, XY, -5, -7, +8, ins(12;7)(p11;q?q?), add(17)(p13), del(20)(q11q13) refractory anemia with excess of blasts in transformation q10 qter     9797774 5 Mitelman Database, Reference No. 7722 Edit
15 1377933_3_2 45, XY, der(4)t(4;17)(p16;q12), -17/ 45, idem, del(1)(q21q42), t(4;10)(q?22;q23)/ 45, idem, der(7)t(7;17)(p21;q21), del(13)(q13q31), -17, +mar/ 45, idem, del(5)(q23q35), del(13)(q13q14), ins(15;7)(q15;q36q11) [28] cp chronic lymphocytic leukemia q11 q36     1377933, 15360001 3 [1377933], Ref. 23 [15360001] Mitelman Database, Reference No. 4322 Edit
16 16213362_7 45, XX, t(5;9)(q35;q22), -7, dup(21)(q22q22) [4]/ 46, idem, ins(8;7)(p11;q11q32), der(11)t(7;11)(q32;p15), dup(21)(q22q22), +mar [5]/ 46, XY [3] acute lymphoblastic leukemia q11 q32     16213362 7 Mitelman Database, Reference No. 11222 Edit
17 12454746_INS 48, XY, ins(12;7)(p13;q36q11.1), +13, +19 acute myeloid leukemia q11.1 q36     12454746 INS breakpoint at 7q36 is distal to HLXB9; Mitelman Database, Reference. No. 9949 Edit
18 7239519_DL_3 46, XY, dup(7)(q22q34) or ins(7)(q22 or q34q22q11.2) heart murmus, hip dislocation, slight hypotelorism, epicanthus, prominent frontal bones, small nose, large mouth, widely spaced nipples, severe hypotonia, severe psychomotor retardation q11.2 q22     7239519 DL (Figure3a & 3b)   Edit
19 2194394_father 46, XY, dir ins(9;7)(p12;q11.2q22) phenotypically normal q11.2 q22     2194394 father   Edit
20 Walker_1981_son 46, XY, der(13)ins(13;7)(q14.3;q11.2q21.2) pat severe mental retardation, unusual facies, other dysmorphic features q11.2 q21.2     son first reported in Walker and Lindenbaum, 1981, Clin Genet 20:399-400 Edit
21 Walker_1981_father_1 46, XY, inv(7)(q21.2q36)ins(13;7)(q14.3;q11.2q21.2) phenotypically normal q11.2 q21.2     3491573, 3770747, 7717416 father [Walker et al.], ref 39 [3491573], case 9 [3770747] first reported in Walker and Lindenbaum, 1981, Clin Genet 20:399-400 Edit
22 1895319_D3_1 46, XY, ins(7)(p15.1q11.21q11.23)del(7)(q21.2q22.1) de novo bilateral split hand/split foot, malformed ears, hyperterolism, mildly delayed speech, full-scale IQ of 84 q11.21 q11.23     1895319, 8023840, 7987313, 7616545, 8782053, 15692208, 15732063 D3 [8023840, 7987313], ref. 10 [8782053]   Edit
23 ECACC_92082715_1 46, XY, ?ins(7)(p15.1;q11.21q11.23)?del(7)(q21.3) split hands q11.21 q11.23     92082715 (cell line: QQ0486) www.ecacc.or.uk Edit
24 1506468 46, XY, t(1;21)(p22.1;q22.3)ins(21;7)(q22.3;q36.1q11.23) de novo autistic disorder (DSM-III-R), mental retardation q11.23 q36.1     1506468, 9813777, 10190335     Edit
25 7810568 46, XX, ins(7;14)(7pter-> 7q11.23::14q32.2-> 14q22::7q21.2-> 7qter), ins(14;7)(14pter-> 14q22::7q11.23-> 7q21.2::14q32.2-> 14qter) mat five miscarriages in the first trimester of pregnancy over 9 years q11.23 q21.2     7810568 proposita two previous brothers died soon after birth; mother had same balanced insertional translocation Edit
26 MCN_19750001-121 46, XX, inv ins(2;7)(q36.1;q22q11.23)del(2)(q36.3) de novo mental retardation, abnormal ear shape/structure, coarse face, flat occiput (brachycephaly), down-slanting palpebral fissures q11.23 q22     MCN ID: 19750001-121 www.mcndb.org Edit
27 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
28 Johnson_ASHG1978_mother 46, XX, ins(1;7)(p13-p22;q21q22) phenotypically normal q21 q22     mother mother of Johnson_ASHG1978_proband; repoarted in Johnson et al., 1978, Am J Hum Genet 30:84A , abstract Edit
29 9669835_6 46, XY, der(4)t(4;5)(q34;q14), der(5)t(4;5)(q33;q14), der(6)t(6;15)(p22;q11), del(7)(q21q34), ins(9;7)(p21;?q21q33), del(11)(q24), der(12)t(12;22)(p12;q11), -18, +mar acute myeloid leukemia - M5a evolving to M2 q21 q33     9669835 6 Mitelman Database, Reference No. 7769 Edit
30 9614920_1 46, XY, del(7)(q1?q1?), der(11)ins(11;7)(q13;q21q32) [18]/ 46, XY [2] refractory anemia with amegakaryocytic bone marrow q21 q32     9614920   Mitelman Database, Reference No. 7459 Edit
31 730173_mother 46, XX, ins(5;7)(q14;q32q22) mat phenotypically normal, history of spontaneous abortion q21 q32     730173 mother mother of 730173_patient; mother (maternal grandmother of patient) had same insertion Edit
32 18556065_12 47,XY,dup(1)(q12q32),ins(13,7 )(q21;q21q31),+ 21[14] myelodysplastic syndrome - refactory anemia with excess of blasts in transformation q21 q31     18556065 Patient 12   Edit
33 ECACC_94091505 46, XX, dir ins(22;7)(q13.3;q21.1)mat phenotype abnormal q21.1       94091505 (cell line: CC0130) sister of CC0023 (46, XY, 22q+; diagnosed with micrognathia), daughter of ECACC_94093005 (CC0131); www.ecacc.or.uk Edit
34 ECACC_94093005 46, XX, dir ins(22;7)(q13.3;q21.1) phenotypically normal q21.1       94093005 (cell line: CC0131) mother of ECACC_94091505 (CC0130) and CC0023; www.ecacc.or.uk Edit
35 10227392_6_1 46, XY, t(7;8;11;13)(7pter-> 7q21.1:: 7q36 -> 7qter; 8pter-> 8q21.3:: 11p14.3-> 11p14.3:: 7q31-> 7q36:: 13q21.2-> 13qter; 11pter-> 11p14.3:: 8q21.3-> 8q21.3:: 7q21.1-> 7q21.1:: 11p14.3-> 11qter; 13pter-> 13q21.2:: 7q21.1-> 7q31:: 8q21.3-> 8qter) de novo Moebius syndrome, moderate to severe mental retardation, ptosis, blepharophimosis, atrophy of optic nerve, severe amblyopia, short metacarpals and metatarsals, hypoplastic pectoral muscles, hypotonic mandible and facial muscles q21.1 q21.1   D7S524/ D7S554 10227392, 11288711 case 6 [10227392], MCN ID: 19760003-001 7q21.1 segment was inserted into 11p14.3; www.mcndb.org Edit
36 14679581_4_2 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 q21.11 q21.11 RP4-802A9/ RP5-897G10 RP4-649P17/ RP11-727N2 14679581 patient 4   Edit
37 Humphreys1991_mother 46, XX, ins(2;7)(p15;q21.12q31.32) phenotypically normal, spontaneous abortion q21.12 q31.32     12407716 mother first reported in Humphreys et al., 1991, J Med Genet 28: 574 Edit
38 Humphreys1991_patient 46, XY, der(2)ins(2;7)(p15;q21.12q31.32) mat [inferred] abnormalities of hands and feet, small eyes with downward slanting palpebral fissures, flat nasal bridge, small, upturned nose, low set, abnormal ears and micrognathia; high palate, nipples widely spaced, long fingers q21.12 q31.32     12407716, 11531975 patient tirosmy of 7q21.12-q31.32; first reported in Humphreys et al., 1991, J Med Genet 28: 574 Edit
39 9880208 46, XY, der(6)ins(6;7)(q16.2;q21.2q22.1) pat? moderate mental retardation, multiple congenital anomalies, macrocephaly, hypertelorism, syndactyly q21.2 q22.1     9880208, 11531975, 12407716, 12818530 BC trisomy 7q21.2-7q22.1; two normal brothers had balanced ins(6;7) Edit
40 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
41 9350823_proband 46, XX, ins(22;7)(q13.3;q21.2q22.1) limited intellectual ability, retromicrognathia, high arched palate q21.2 q22.1     9350823 proband (II-1)   Edit
42 9350823_son 46, XY, der(22)ins(22;7)(q13.3;q21.2q22.1) mat high arched palate, hypotonia, global developmental delay, micrognathia, undescended testes q21.2 q22.1     9350823 son (III-3) trisomy of 7q21.2-q22.1 Edit
43 1951445 46, XY, t(2;13;16)(q11;q12;p11), ins(6;7)(p21.3;q21.3q35) de novo mental retardation, delayed psychomotor development, facial anomalies, autistic behaviour with superficial and difficult contacts q21.3 q35     1951445 30-month-old boy   Edit
44 Mendoza-Londono_A125_1 46, XY, ins(10;7)(p22.3;q31.1q22.2), ins(10;7)(q26.12;q22.1q21.3) split hand/split foot (right hand and bilateral feet) q21.3 q22.1 SLC25A13     Mendoza-Londono et al., 2003, abstract, #125, 2003 Annual Clinical Genetics Meeting Edit
45 10602362_4_1 46, XY, t(6;7;18;21)(6pter-> 6q22::6q25-> 6qter; 7pter> 7q21.3::21q21.3-> 21qter; 7qter-> 7q32.1::18p11.21-> 18q21.3::7q31.3-> 7q32.1::6q22> 6q25::18q21.3-> 18qter; 21pter-> 21q21.3::7q21.3-> 7q31.3::18p11.21-> 18pter)dn phenotypically normal q21.3 q31.3     10602362, 11139537 patient 4 [10602362], case 10 [11139537] balanced rearrangements; father of 10602362_1, 2, 3 Edit
46 ECACC_91091306_2 46, XX, ?inv ins(7)(q33;q22.1q21.3) phenotype abnormal q21.3 q22.1     91091306 (cell line: DD0447) daughter of ECACC_91091307; www.ecacc.or.uk Edit
47 ECACC_91091307_2 46, XX, ?inv ins(7)(q33;q22.1q21.3) phenotypically normal q21.3 q22.1     91091307 (cell line: DD0448) mother of ECACC_91091306; www.ecacc.or.uk Edit
48 MCN_19900003-128 46, XY, ins(8;7)(q24.22;q21.3q32) de novo seizures q21.3 q32     MCN ID: 19900003-128 www.mcndb.org Edit
49 MCN_19990028-292_2 46, XY, t(5;6)(q23.2;p12), ins(7)(p15.1;q21.3q31.3) mental retardation, abnormal ear shape/structure, hearing abnormal congenital/a cquired, micrognathia/a gnathia total/retrognathia q21.3 q31.3     MCN ID: 19990028-292 www.mcndb.org Edit
50 18255367_2 46,XY,t(2;7)(p24;p21),i ns(7)(p21.3q21.3q22).ish del(7)(p21.3p21.3)(RP11-455K15-)de novo Saethre-Chotzen syndrome, craniosynostosis, brachydactyly and syndactyly of toes, clinodactyly, hypoplastic left kidney, short and wide neck, bilateral ptosis, epicanthic folds, depressed nasal bridge and low-set ears, small hands and feet with single palmar crease, delayed psychomotor and language development q21.3 q22 RP11-737N20   18255367 proband   Edit
51 10851255_1_2 46, XX, rev ish t(2;3;7)(2pter-> 2q32::7q31.3-> 7qter; 3pter-> 3p21.3::2q32-> 2q34::7q22-> 7q31.3::3p21.3-> 3qter;7pter-> 7q22::2q34-> 2qter) bilateral split feet q22 q31.3 SLC25A13   10851255 mother (1) daughter carries the same chr. aberration and bilateral split feet Edit
52 4541809 46, XX, der(3)ins(3;7)(q27;q22q31) mat developmental retardation, dysmorphic features, apathetic, did not smile, could not follow objects, severe mental retardation, mild diplegia q22 q32     4541809, 4438062, 1084120, 7390476 case 5 [7390476] trisomy of 7q22-q32; mother and sister had balanced ins(3;7) Edit
53 10851255_3 46, XY, der(3)(3pter-> 3p21.3::2q32-> 2q34::7q22-> 7q31.3::3p21.3-> 3qter) mat widely spaced first and second toes, significant nail hypoplasia, disproportionate size of fingers to hand, relatively long thorax, epicanthus medialis, intestinal malformations, spina bifida occulta q22 q31.3     10851255 patient, son (3) trisomy of 7q22-q31.3; son of 10851255_1, brother of 10851255_2 Edit
54 10851255_2_2 46, XX, rev ish t(2;3;7)(2pter-> 2q32::7q31.3-> 7qter; 3pter-> 3p21.3::2q32-> 2q34::7q22-> 7q31.3::3p21.3-> 3qter;7pter-> 7q22::2q34-> 2qter) bilateral split feet q22 q31.3     10851255 sister (2) mother carries the same chr. aberration and bilateral foot deformities Edit
55 1080040 46, XY, der(13)ins(13;7)(q31;q22q31) pat dysmorphic features, dilatation of lateral ventricles with subcortical atrophy, hyperextensibility q22 q31     1080040, 1084120, 7390476 case 4 [7390476] trisomy of 7q22-q31 Edit
56 11139537_2 46, XY, t(7;9)(q22;p24), ins(8;7)(q21.2;q22q32). ish der (9)(wcp7+); ins(8;7)(wcp8+,w cp7+) phenotypically normal; wife had many miscarriages q22 q32     11139537 Husband (case 11)   Edit
57 8322806_T4 46, XY, ins(3;7)(q21;q34q22) de novo unilateral split hand (right), bilateral split foot, high arched palate, bifid uvula, normal cognitive development q22 q34 stSG48566/ RH36420   8322806, 8023840, 7987313, 8733122, 8782053, 10049579, 12690205 T4 [8023840, 7987313, 8733122, 10049579], ref. 13 [8782053], MCN ID: 19930011-999 www.mcndb.org Edit
58 11319801_5_2 45, XY, der(5)t(2;5)(p25;q13), der(7)t(7;13)(p13;q?31)ins(7;13)(q22;q?), -13 [2]/ 46, XY, t(2;2;5;12;17)(p25;q23;q31;p13;q12), der(5)t(2;5), der(7)t(1;7)(?;q22), del(13)(q12q32) [6]/ 47, idem, +del(13)(q11) [1] refractory anemia with excess of blasts q22       11319801, 11455985 5 [11319801], 16 [11455985] Mitelman Database, Reference No. 9187 Edit
59 ECACC_99032503_2 46, XY, ?dir ins(7)(?q21.3;?q22?q31.1) phenotype not given q22 q31.1     99032503 (cell line: CC0207) father of ECACC_99032504; www.ecacc.or.uk Edit
60 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
61 9439652_TE1_2 46, XY, t(5;7)(q15;q11.2)ins(7;5)(q22 or q31;q13q15) [revised based on SKY] multiple miscarriages q22 q31     9439652 case TE1   Edit
62 15066321_25 47, XX, del(2)(q14q32), del(5)(q13q33), add(7)(q31), add(14)(q22), +mar [10]/ 46, XX [2] .ish der(14)ins(14;7)(wcp7+, 46O13-, D7S480+, D7S650+, D7S1867+, D7S686+, D7S684+, D7S2227+, tel7q+) acute myeloblastic leukemia q22 q34 - 36 RP11-46O13/ D7S480 D7S2227/ G31340 15066321 25 telomeric probe was translocated to a marker chromosome; Mitelman Database, Reference No. 10594 Edit
63 MCN_19940001-032_2 46, XX, dir ins(7)(q21.3;q22q31.1) pat cleft hard palate, GH-deficiency, Hearing abnormal congenital/a cquired, small for gestational age (IUGR) q22 q31.1     MCN ID: 19940001-032 www.mcndb.org Edit
64 10469450_46 46, XX, ins(1;7)(q24.3;q22q36), add(2)(q33), der(6) [5]/ 46, idem, t(X;4)(q31.1;q27) [5]/ 46, XX[2] pulmonary chondroid hamartoma q22 q36     10469450 46 Mitelman Database, Reference No. 8134 Edit
65 4438062_mother 46, XX, del(7)(q22q31), t(5;7;17)(q31;q22q31;p13) [inferred: t(5;7;17)(5pter-> 5q31:; 7pter-> 7q22::q31-> qter; 17qter->17p13::7q22-> 7q31 or 7q31-> 7q22::5q31-> 5qter)] phenotypicall normal q22 q31     4438062 mother   Edit
66 4438062_proposant 46, XY, t(5;7;17)(q31;q22q31;p13) [inferred: der(5)(5pter-> 5q31:), der(17)(17qter->17p13::7q22-> 7q31 or 7q31-> 7q22::5q31-> 5qter)] hypotonia, psychomotor retardation, frontal and parietal bossing, hypertelorism, epicanthus, convergent strabismus, gross tongue, prognathism, strabismus q22 q31     4438062, 7390476 proposant, G.F. [4438062], case 6 [7390476] trisomy of 7q22-q31 Edit
67 Mendoza-Londono_A125_2 46, XY, ins(10;7)(p22.3;q31.1q22.2), ins(10;7)(q26.12;q22.1q21.3) split hand/split foot (right hand and bilateral feet) q22.2 q31.1       Mendoza-Londono et al., 2003, abstract, #125, 2003 Annual Clinical Genetics Meeting Edit
68 Conte_ASHG2005 46, XY, ins(6;7)(q23;q36q31)c. ish ins(6;7)(6ptel+, wcp6+, wcp7+, wcp6+, 6qtel+; 7ptel+, wcp7+, D7S522+, wcp7+, 7qtel+) smoldering multiple myeloma q31 q36       Conte et al., ASHG 2005, Program #298 Edit
69 Maloney_ESHG2005_2_2 46, XY, ins(7)(p14q31q34) del(7)(q31q31) [cryptic del(7)(q35q35) was detected by FISH] mild to moderate learning difficulties, arrested hydrocephalus, short stature, small head q31 q34     second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
70 12913872_F_1 46, XX, ins(7)(p22;q32q31.1) fertile; terminations of pregnancy or miscarriage in two out of three pregnancies q31.1 q32     12913872 case F   Edit
71 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
72 10602362_1_1 46, XY, t(6;7;18)(7pter-> 7q31.3::18p11.21-> 18pter; 7qter-> 7q32.1::18p11.21-> 18q21.3::7q31.3-> 7q32.1::6q22-> 6q25::18q21.3-> 18qter) pat small nose, prominent upper lip, prominent philtrum, umbilical hernia, rt. inguinoscrotal hernia, small thorax with thin ribs, single palmar creases, syndactyly between toes IV and V, brachycephaly, myopia, small penis, clinodactyly V, decreased motor skill, ventricular septum defect q31.3 q32.1     10602362 patient 1 first son of 10602362_4 Edit
73 10602362_3 46, XY, t(6;7;18)(6pter-> 6q22::6q25-> 6qter; 18pter-> 18q21.3::7q31.3-> 7q32.1::6q22-> 6q25::18q21.3-> 18qter) pat epicanthic folds, slightly depressed nasal bridge, thick alae nasi, anteverted nares, postaxial hexadactyly of both hands, tapering fingers, small umbilical hernia, normal psychomotor development q31.3 q32.1     10602362 patient 3 third son of 10602362_4 Edit
74 10602362_4_2 46, XY, t(6;7;18;21)(6pter-> 6q22::6q25-> 6qter; 7pter> 7q21.3::21q21.3-> 21qter; 7qter-> 7q32.1::18p11.21-> 18q21.3::7q31.3-> 7q32.1::6q22> 6q25::18q21.3-> 18qter; 21pter-> 21q21.3::7q21.3-> 7q31.3::18p11.21-> 18pter)dn phenotypically normal q31.3 q32.1     10602362, 11139537 patient 4 [10602362], case 10 [11139537] balanced rearrangements; father of 10602362_1, 2, 3 Edit
75 20082467_2 46,XX,der(7)del(7)(q21.11q21.3)de novo,ins(7)(q21.3q31.31q35)de novo autistic features, delayed speech, mental retardation, anxiety disorder, coordination disorder, hypotonia, hip dysplasia, tentedmouth, high palate, simple formed left lop ear, dysplastic rightear, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, small palpebral fissures, scoliosis, long halluxes, abnormal EEG q31.31 q35 RP5-1047E14 RP4-545C24 20082467 index patient   Edit
76 12746414_1 46, XX, der(5)(5pter-> 5p13::7q31.32-> 7q34::7q35-> 7q36::7q31.32-> 7q31.32::5p13->5qter), der(7)(7pter-> 7q31.32::7q36-> 7qter) [revised based on M-FISH] developmental delay, several craniofacial dysmorphic features q31.32 q36 RP5-1062J16/ RP11-560I19 RP4-708P22/ RP5-1058P19 12746414   this whole segment was inserted into 5p13 - this segment consisted of four fragments 1 - 4 Edit
77 12746414_3 46, XX, der(5)(5pter-> 5p13::7q31.32-> 7q34::7q35-> 7q36::7q31.32-> 7q31.32::5p13->5qter), der(7)(7pter-> 7q31.32::7q36-> 7qter) [revised based on M-FISH] developmental delay, several craniofacial dysmorphic features q31.32 q31.33 RP5-1062J16/ RP11-560I19 RP11-390E23/ RP5-902E20 12746414   fragment 1: 1.59 Mb in size, inserted between 7q36 and 5p13 Edit
78 3346885 46, XY, der(2)ins(2;7)(q21;q34q32) mat congenital esotropia, mental and physical retardation, bilateral optic nerve hypoplasia, many minor dysmorphic features q32 q34     3346885, 10766986, 11531975 index (I-2) trisomy of 7q32-q34; mother, sister, maternal aunt had balanced ins(2;7) Edit
79 500394_proband 46, XY, der(6)ins(6;7)(q21;q32qter) ins(6;20)(q27;p11pter) mat hypotonic, macrocephaly, antimongoloid slanting eyes, light ptosis, low nasal bridge, low-set ears, moderate micrognathia, short neck, membranous anal atresia, one-sided hearing defect q32 qter     500394 proband trisomy of 7q32-qter Edit
80 11694545_38 46, XY, der(7)ins(13;7)(q32;q32q34) mat. rev ish dim(7q32q36) prenatal diagnosis, phenotype not given q32 q34     11694545   monosomy of 7q32-34 Edit
81 10766986_propositus 46, XY, der(14)ins(14;7)(q13;q32q34) mat mental and developmental retardation, seizures disorder, macrocephaly, generalized muscular hypertonia, kyphoscoliosis, minor anomalies, prominent midface, rigid gait q32 q34     10766986 propositus trisomy of 7q32-q34; brother of 10766986_brother Edit
82 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
83 12150739 46, XX, dir ins(1;7)(p32;q32q35) mat, (WCP7, 7q36) phenotypically normal, three spontaneous abortions within the first trimester of pregnancy q32 q35     12150739 25-year-old woman mother had history of spontaneous abortion and same insertion Edit
84 500394_mother 46, XX, ins(6;7)(q21;q32qter) ins(6;20)(q27;p11pter) phenotypically normal q32 qter     500394 mother   Edit
85 537020_proband 46, XX, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, hypertelorism, flat nasal bridge with broad bulbous tip, low-set ears, wide mouth q32 q34     537020, 6758992, 3265313, 16222668 proband (III-11) [537020], case 27 [6758992] monosomy of 7q32-q34; two maternal cousins had same karyotype Edit
86 537020_cousin _III-8 46, XX, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, speech delay, hypertelorism, flat nasal bridge with broad bulbous tip, low-set ears, wide mouth, bilateral optic atrophy and hypermetropia, seizures q32 q34     537020, 6758992, 3265313, 16222668 maternal first cousin of proband (III-8) [537020], case 28 [6758992] monosomy of 7q32-q34; brother (537020_cousin _III-10), maternal first cousin (537020_proband) had same karyotype Edit
87 537020_cousin _III-10 46, XY, der(7)ins(13;7)(q32;q32q34) mat mental & developmental retardation, speech delay, hypertelorism, bulbous nose, synophrys, wide mouth, large ears q32 q34     537020, 6758992, 3265313, 16222668 maternal first cousin of proband (III-10) [537020], case 29 [6758992] monosomy of 7q32-q34; sister (537020_cousin _III-8), maternal first cousin (537020_proband) had same karyotype Edit
88 16222668_proband 46, XY, der(7)ins(6;7)(p25;q33q34) mat matsevere mental retardation, psychomotor development, very little speech, sensorineural hearing deficit, strabismus, diplopia, hypertelorism, depressed nasal bridge, epicanthal folds, low set ears, micrognathia, marked philtrum, short & broad hands q33 q34 RP11-344L16 RP11-250J16/ RP11-707F14 16222668 proband (IV-6) monosomy of 7q33-q34; severely affected maternal uncle (III-1) and aunt (III-3) had same der(7) Edit
89 16222668_cousin_IV-2 46, XY, der(6)ins(6;7)(p25;q33q34) mat mental retardation, motor developmental delay, mildly delayed speech, no dysmorphic features q33 q34 RP11-344L16 RP11-237G17/ RP5-894A10 16222668 first cousin of proband (IV-2) trisomy of 7q33-q34 (except for 227-kb segment at 7q34); mother (III-4) had same der(6); brother of IV-3 Edit
90 16222668_cousin_IV-3 46, XY, der(6)ins(6;7)(p25;q33q34) mat speech delay, no dysmorphic features q33 q34 RP11-344L16 RP11-237G17/ RP5-894A10 16222668 first cousin of proband (IV-3) trisomy of 7q33-q34 (except for 227-kb segment at 7q34); mother (III-4) had same der(6); brother of IV-2 Edit
91 16222668_mother_1 46, XY, ins(6;7)(p25;q33q34) mat [del(7)(q34q34) was detected by FISH] phenotypically normal q33 q34 RP11-344L16 RP11-237G17/ RP5-894A10 16222668 mother of proband (III-5) mother (grandmother of proband) had same balanced insertion Edit
92 MCN_20020001-001_2 46, XX, ins(7)(q22;q34q36.1) mental retardation, deafness - neurosensory, abnormal ear shape/structure q34 q36.1     MCN ID: 20020001-001 www.mcndb.org Edit
93 12850374_1_1 46, XX, der(6)ins(6;7)(p21;q34q11)del(6)(p21), der(7)del(7)(p15)t(6;7)(p21;q11), dup(7)(p22p15) low-grade malignant endometrial stromal sarcoma, abdominal metastases q34 q11     12850374 1 Mitelman Database, Reference No. 10210 Edit
94 Krüger_ESHG2004_2_mother 46, XX, ins(10;7)(q22.1;q34q36.1) phenotype not given q34 q36.1     mother of case 2 Krüger et al., ESHG 2004, P0041 Edit
95 ECACC_95102509_2 46, XX, ins(7)(q42.1;q34.1q35) phenotype abnormal q34.1 q35     95102509 (cell line: DD2442 ) father of ECACC_95101919 and ECACC_95101920; www.ecacc.or.uk; error in karyotype: 7q42.1 does not exist Edit
96 MCN_19950001-002_2 46, XY, ins(7)(q32.1q34.1q35) mental retardation, microcephaly, speech defect, generalised obesity, hyperphagia q34.1 q35     MCN ID: 19950001-002 www.mcndb.org Edit
97 19582487_2 46,XYqs pat, dup(1)(pter->p32.3::p32.3->p32.3::p32.3->qter)mat, der(1)(1pter->1q31.2::7q35->7q35::7q35->7q35::1q31.2->1q41.1::1q41.1->1qter),d er(7)(7pter->7q32.1::7q35->7q32.1::7q35->7qter)de novo ASD, speechdelay, violent outbursts, hyperactive, positional talipes at birth, mild hypospadia, mild truncalataxia, hypermobile joints, small facial features, micrognathia, ptosis, 2/3 toe syndactyly q35 q35 RP11-49G5 RP11-697B15 / RP4-630F1 19582487   CNTNAP2 gene disrupted Edit
98 19582487_3 46,XYqs pat, dup(1)(pter->p32.3::p32.3->p32.3::p32.3->qter)mat, der(1)(1pter->1q31.2::7q35->7q35::7q35->7q35::1q31.2->1q41.1::1q41.1->1qter),d er(7)(7pter->7q32.1::7q35->7q32.1::7q35->7qter)de novo ASD, speechdelay, violent outbursts, hyperactive, positional talipes at birth, mild hypospadia, mild truncalataxia, hypermobile joints, small facial features, micrognathia, ptosis, 2/3 toe syndactyly q35 q35 RP5-969D4 /RP11-643A21 RP4-777G9 19582487   CNTNAP2 gene disrupted Edit