The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- INSERTIONS INTO CHROMOSOME 7 (Non Malignant)

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 1623626_1 46, XX, ins(7)(p22.1p21.4q36.1) mat had three first trimester miscarriages and one second trimester intrauterine death p22.1       1623626 proband mother, sister, maternal uncle and cousins have same insertion Edit
2 12913872_F_2 46, XX, ins(7)(p22q32q31.1) fertile; terminations of pregnancy or miscarriage in two out of three pregnancies p22       12913872 case F   Edit
3 18801060_3_1 46,XX,-1, add(4)(q21), -5, der(7)add(7)(p22)del(7)(q32), -11,+3mar 11 โ„ 2092,XXXX, -1,-1, add(4)(q21)ยท2, -5, -5, der(7)add(7)(p22)del(7)(q32)x2, -11, -11, +6mar 1 โ„ 2046,XX 8 โ„ 20 myelodysplastic syndrome, refractory anemia with excess blasts p22       18801060 Patient 3   Edit
4 18255367_3 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 p21.3   RP11-737N20   18255367 proband   Edit
5 ECACC_92112742 46, XX, der(7)ins(7;12)(p21.2;q22q15) pat abnormal phenotype p21.2       92112742 (cell line: DD1085) amniocytes; mother of ECACC_92121014 (DD1103); ecacc.org.uk; data unpublished Edit
6 ECACC_92121014 46, XX, der(7)ins(7;12)?(p21.2;q22q15) mat (TOP autopsy showed) post nuchal swelling, gastroschisis & talipes equinovarus p21.2       92121014 (cell line; DD1103) fetus of ECACC_92112742 (DD1085); www.ecacc.or.uk Edit
7 Toksoy_ESHG2006_1 46, XY, der(7)(pter-> p21::q34-> q31.2::p21-> p15.3::q11.23-> q31.2::p15.3-> q11.23::q34-> qter) de novo severe growth retardation, trigonocephaly, short neck, dysmorphic face, cleft palate, digital anomalies; died at 41 days of age p21 p15.3       Toksoy et al., ESHG, 2006, P0371 Edit
8 1959919 46, XX, ins(7;1)(p15.3;q12q21.3) mat? six spontaneous abortions, otherwise phenotypically normal p15.3       1959919 proband (II-8) daugher (III-11), monozygotic twin sister (II-7) and her daughter (III-3) had same insertion; mother (I-4) had three multiple spontaneous abortions from her first husband (I-5) Edit
9 1895319_D3_2 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 p15.1       1895319, 8023840, 7987313, 7616545, 8782053, 15692208, 15732063 D3 [8023840, 7987313], ref. 10 [8782053]   Edit
10 ECACC_92082715_2 46, XY, ?ins(7)(p15.1;q11.21q11.23)?del(7)(q21.3) split hands p15.1       92082715 (cell line: QQ0486) www.ecacc.or.uk Edit
11 MCN_19990028-292_1 46, XY, t(5;6)(q23.2;p12), ins(7)(p15.1q21.3q31.3) mental retardation, abnormal ear shape/structure, hearing abnormal congenital/a cquired, micrognathia/a gnathia total/retrognathia p15.1       MCN ID: 19990028-292 www.mcndb.org Edit
12 McGavran_ASHG1989 46, XY, t(2;16)(q13;q13), del(6)(p2?), ins(7)(p15), inv(8)(p12q24.3) mild learning disabilities, language delay, unusual facies, synophrys, low-set ears, bilateral absence of tear ducts, low posterior hairline, bilateral accessory nipples, mild hypotonia, normal IQ p15       7-year-old male Am J Hum Genet. 1989; 34:135A, #379 Edit
13 7197256 46, XX, t(6;12)(q27;q21), ins(7;8)(p14;q22q13) pat phenotypically normal, multiple miscarriages (four out of five pregnancies) p14       7197256 proband (III-1) father (II-1), son (IV-1), sister (III-4) and her daugher (IV-9) had same translocation and insertion Edit
14 Maloney_ESHG2005_2_1 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 p14       second patient, 7-year-old male Maloney et al., ESHG, 2005, #P0367 Edit
15 9703427_B 46, XY, ins(7;?)(p13;?). ish ins(7;?)(p13;฿-s)(wcp 1-, 7-, 13-, 14-, 15-, 21-, 22-, D1Z3-, D1Z7-, all-α-s-, acrocentric ฿-s+) mat developmental delay, feeding difficulties, growth delay, triangular face, frontal bossing, broad small nose, down-turned mouth, small head, clinodactyly of 5th fingers, p13       9703427 case B phenotypically normal mother had same insertion; insertion of beta-satellite DNA into the short arm Edit
16 MCN_19910001-293 46, XY, ins(7;14)(p11;q11.2q13.2) de novo mental retardation, anteverted nostrils, terminal hypoplasia of toes, deeply grooved philtrum, macroglossia, anteverted/prominent/b at ears, hypoplastic/s mall nostrils, round face, abnormal plantar creases, high vaulted and narrow palate, other dental abnormality, hypotonia, dysphagia/feeding difficulty p11       MCN ID: 19910001-293 www.mcndb.org Edit
17 MCN_19970017-224 46, XY, ins(7;13)(q11.2;q22q32) infertility q11.2       MCN ID: 19970017-224 reported in XiaJiaHui (Ed), et al. Repository of Human Chromosomal Anomalies in China. Human Science & Technology; www.mcndb.org Edit
18 14679581_3_2 46, XY, der(2)(2pter-> 2p13::2p11.2-> 2qter), der(7)t(2;7;14)(7pter-> 7q21.11::7q21.11-> 7q21.11::2p11.2-> 2p13::7q21.11-> 7q31.1::14q24.1-> 14qter) del(7)(q21.11q21.11), der(14)t(7;14)(14pter-> 14q24.1::7q32-> 7qter) speech development delay, psychomotor delay, macrocephaly, hypertelorism, retrograthia, mild hypotonia, tremor of the hands q21.11   RP5-897G10/ RP4-649P17   14679581, 16470734 patient 3   Edit
19 ECACC_90092002 46, XY, ins(7;6)(q21.2;q16.2q23.1) phenotypically normal q21.2       90092002 (cell line: AL0003) www.ecacc.or.uk Edit
20 ECACC_99032503_1 46, XY, ins(7)(?q21.3?q22?q31.1) phenotype not given q21.3       99032503 (cell line: CC0207) father of ECACC_99032504; www.ecacc.or.uk Edit
21 ECACC_99032504_1 46, XX, ins(7)(?q21.3?q22?q31.1)pat small at birth, growth hormone deficiency, cleft palate, hearing loss q21.3       99032504 (cell line: CC0208); MCN ID: 19940001-032 daughter of ECACC_99032503; www.ecacc.or.uk; www.mcndb.org Edit
22 MCN_19940001-032_1 46, XX, ins(7)(q21.3q22q31.1) pat cleft hard palate, GH-deficiency, Hearing abnormal congenital/a cquired, small for gestational age (IUGR) q21.3       MCN ID: 19940001-032 www.mcndb.org Edit
23 20082467_3 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 q21.3       20082467 index patient   Edit
24 8192752 46, XY, ins(7;8)(q22;q12q24) de novo ectrodactyly of both hands, polyspenia, situs inversus, cardiac murmur q22       8192752, 8782053 ref. 15 [8782053]   Edit
25 293234_mother 46, XX, ins(7;13)(q22;q31q32 or q32q34) phenotypically normal q22       293234 mother proband (daughter) had del(13)(q32q34) Edit
26 MCN_20020001-001_1 46, XX, ins(7)(q22q34q36.1) mental retardation, deafness - neurosensory, abnormal ear shape/structure q22       MCN ID: 20020001-001 www.mcndb.org Edit
27 7239519_DL_2 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 q22 q34     7239519 DL (Figure 3a & 3b)   Edit
28 539602_mother_2 46, XX, ins(7)(q22p15p21) mat phenotypically normal q22       539602 mother (ll-15) mother of 539602_1 Edit
29 4539763_mother 46, XX, inv? ins(7;3)(q31;p21p26) hypertelorism, macrostomia, congenital heart disease q31       4539763 mother (II-4) mother of 4539763_sons Edit
30 4539763_sons 46, XY, der(7)ins(7;3)(q31;p21p26) mat square-shaped facies, hypertelorism, macrostomia, high frequency of whorls on the fingers; one had congenital heart disease, and mesenterium commune, died at 4 months of age; one had congenital heart disease, esophageal atresia, cleft palate, died at 2 days; the other child (III-8) had mental retardation, certain features remniscent of testicular feminisation syndrome q31       4539763 three sons (III-7, -8, -9) three sons of 4539763_mother Edit
31 15337478_2_2 46, XX, der(1), t(1;11)(p13.3;q14.3), der(7), t(1;7)(p21;q31.1), ins(7;8)(q31.1;p11.2p11.1), der(8), t(7;8)(q31.2;p11.2), der(11), t(8;11)(p11.2;q14.2) de novo [balanced t(1;11;8;7)ins(8;7)] two miscarriages, infertility q31.1       15337478 case 2   Edit
32 ECACC_95031001 46, XY, der(7)ins(7;?)(q31.2;?) phenotype abnormal q31.2       95031001 (cell line: QQ0613) inherited by son; www.ecacc.or.uk Edit
33 21082657_1_1 46,XX,ins(7;13)(q32q34;q32).arr 7q34q36.2(141,630,000โ€“153,8 70,000)x1 developmental delay, poor motor skills, language delay, mental retardation, ADD, epilepsy, primary amenorrhea, short stature, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth, thickvermilion, low-set ears, scoliosis, atrophy of the optical nerve, strabismus convergens q32 q34     21082657   insertion found in 3 generation family Edit
34 21082657_2_1 46,XY,ins(7;13)(q32q34;q32).arr 7q32q34(141,630,000โ€“153,870,0 00)x1 delayed psychomotor development, language delay, epilepsy, severe mental retardation, aggressive behaviour, autistic behaviour, hypertelorism, deep-set eyes, narrow palpebral fissures,bulbous nasal tip, broad nasal bridge, broad mouth and thickvermilion, slightlyprominent bilateral deep-tendon reflexes, slightly spastic lowerextremities, tiptoe walks q32 q34     21082657   insertion found in 3 generation family; ~12.2 Mb deletion; NCBI36 Edit
35 MCN_19950001-002_1 46, XY, ins(7)(q32.1q34.1q35) mental retardation, microcephaly, speech defect, generalised obesity, hyperphagia q32.1       MCN ID: 19950001-002 www.mcndb.org Edit
36 ECACC_91091306_1 46, XX, ?inv ins(7)(q33q22.1q21.3) phenotype abnormal q33       91091306 (cell line: DD0447) daughter of ECACC_91091307; www.ecacc.or.uk Edit
37 ECACC_91091307_1 46, XX, ?inv ins(7)(q33q22.1q21.3) phenotypically normal q33       91091307 (cell line: DD0448) mother of ECACC_91091306; www.ecacc.or.uk Edit
38 ECACC_2031615 46, XX, der(2)inv(2)(q11.2q24.2)ins(7;2)(q34;q33q24.2), der(7)ins(7;2) global developmental delay q34       2031615 (cell line: BD2973) www.ecacc.or.uk Edit
39 2319577_3 46, XX, -17, +rec(17), dup(7)(q34->qter), dir ins (7;17)(q34;q23.1q25.3) mat hypotonia, hypertelorism, strabismus of the left eye, severely mentally retarded, dysmorphic features q34       2319577, 10951456, 11531925, 12407716 case 3 (IV-30) trisomy of 7q34-qter; cousin of 2319577_2; mother (III-24) and grandmother (II-7) had ins(7;17)(q3;q23.1q25.3) Edit
40 2319577_2 46, XY, -17, +rec(17), dup(7)(q34->qter), dir ins (7;17)(q34;q23.1q25.3) mat laryngomalacia, myopia, kyphoscoliosis, dislocation of the shoulders, moderately mentally retarded q34       2319577, 10951456, 11531925, 12407716 case 2 (IV-29) trisomy of 7q34-qter; cousin of 2319577_3; mother (III-21) and grandmother (II-7) had balanced ins(7;17) Edit
41 12809671_father 46, XY, inv(2)(p23q22), ins(7;2)(q35-36;p21p23) obsessive compulsive disorder, no history of motor or vocal tics q35 q36 AC092676   12809671 father breakpoint was located in intron 8 of CNTNAP2; atfather of 12809671_son and 12809671_daughter Edit
42 12809671_son 46, XY, der(7)ins(7;2)(q35-36;p21p23) pat Gilles de la Tourette syndrome, obsessive compulsive disorder, mental retardation, growth retardation q35 q36 AC092676   12809671 son breakpoint was located in intron 8 of CNTNAP2; son of 12809671_father Edit
43 12809671_daughter 46, XX, der(7)ins(7;2)(q35-36;p21p23) pat Gilles de la Tourette syndrome, obsessive compulsive disorder, mental retardation, growth retardation q35 q36 AC092676   12809671 daughter; MCN ID: 20030013-999 breakpoint was located in intron 8 of CNTNAP2; daughter of 12809671_father; www.mcndb.org Edit
44 7856662 46, XX, ins(7;8)(q36;p11.2p23.1), t(8;13)(8qter -> 8p11.2::13q21.3 -> 13qter; 13pter -> 13q21.3::8p23.1-> 8pter) phenotypically normal; had five spontaneous abortions, one stillbirth of female sex, three children with normal karyotype, and one with 47,XY,+der(13)t(8;13)mat q36       7856662 mother son had 47,XY,+der(13)t(8;13)mat Edit
45 ECACC_95102509_1 46, XX, ins(7)(q42.1q34.1q35) phenotype abnormal q42.1       95101921 (cell line: GK0003) father of ECACC_95101919 and ECACC_95101920; www.ecacc.or.uk; error in karyotype: 7q42.1 does not exist Edit