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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 | 3538996_PA13b | 46, XY, inv(7)(p22.2q21.13) de novo | sterility | p22.2 | q21.13 | 3538996 | PA13b | previously published elsewhere | Edit | ||
| 2 | 2309771_familyG_mother | 46, XX, inv(7)(p22.1q34) | phenotypically normal | p22.1 | q34 | 2309771 | family G, mother | mother of 2309771_familyG_infant | Edit | ||
| 3 | 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 | ||||
| 4 | 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 | ||
| 5 | 9415687_father | 46, XY, inv(7)(p22q22) | phenotypically normal | p22 | q22 | 9415687 | father | Edit | |||
| 6 | 10590434_father | 46, XY, inv(7)(p22q31.3) | phenotypically normal | p22 | q31.33 | D7S490/ D7S686 | 10590434 | father | Edit | ||
| 7 | 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 | |||
| 8 | 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 | ||
| 9 | 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 | |||
| 10 | 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 | ||
| 11 | 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 | ||
| 12 | 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 | ||
| 13 | 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 | ||
| 14 | 11829489_5 | 46, XY, inv(7)(p14p21) | Russell-Silver syndrome | p21.3 - 21.2 | p14.1 | D7S513/ D7S507 | AC006023 | 11829489 | patient 5 | Edit | |
| 15 | 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 |
| 16 | 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 | |||
| 17 | 15039973_DD9707244 | 47, XY, inv(7)(p12.2p21.3) pat | phenotype not given; prenatal diagnosis was done | p21.3 | p12.2 | 15039973 | DD9707244 | Edit | |||
| 18 | 15039973_DD9905387 | 46, XY, inv(7)(p15.2p21.3) mat | abnormal phenotype | p21.3 | p15.2 | 15039973 | DD9905387 | Edit | |||
| 19 | 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 | |
| 20 | Unpublished_25239 | 46, XX, inv(7)(p21.2;q22.1) | autism, psychosis | p21.2 | q22.1 | G248P8726D9 | RP11-110G9 | 25239 | updated Nov/07 | Edit | |
| 21 | 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 |
| 22 | ECACC_95101903 | 46, XX, inv(7)(p21p15) | phenotype not given | p21 | p15 | 95101903 (cell line: CC0166) | www.ecacc.org.uk; data unpublished | Edit | |||
| 23 | 8362388_2 | 46, XY, der(7)del(7)(p21)inv(7)(p13p21) | autism | p21 | p13 | 8362388, 9813777, 11733747 | Edit | ||||
| 24 | 3538996_DI1a | 46, X?, inv(7)(p2109q11.200) | stillbirth | p21 | q11.2 | 3538996 | DI1a | Edit | |||
| 25 | 3538996_RE1 | 46, XX, inv(7)(p2109q11.200) | recurrent abortions | p21 | q11.2 | 3538996 | RE1 | Edit | |||
| 26 | 3538996_ST1 | 46, XY, inv(7)(p2109q11.200) pat | phenotypically normal | p21 | q11.2 | 3538996 | ST1 | father had same inversion | Edit | ||
| 27 | 3538996_TO1 | 46, XY, inv(7)(p2109q11.200) | phenotypically normal | p21 | q11.2 | 3538996 | TO1 | sister had trisomy 21, child had same inversion | Edit | ||
| 28 | 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 | ||
| 29 | 3538996_PA12a | 46, XY, inv(7)(p2100q2100) | phenotypically normal; father of stillbirth | p21 | q21 | 3538996 | PA12a | Edit | |||
| 30 | 3538996_SE1a | 46, XY, inv(7)(p2100q2100) | phenotypically normal; wife had recurrent abortions | p21 | q21 | 3538996 | SE1a | Edit | |||
| 31 | 3538996_SE1b | 46, XY, inv(7)(p2100q11.22) pat | sterility | p21 | q11.22 | 3538996 | SE1b | father had same inversion | Edit | ||
| 32 | 3538996_MA1 | 46, XY, inv(7)(p2100q3109) | phenotypically normal; wife had recurrent abortions | p21 | q31 | 3538996 | MA1 | Edit | |||
| 33 | 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 | ||
| 34 | 8280871_father | 46, XY, inv(7)(p21q32) | phenotypically normal | p21 | q32 | 8280871 | father | Edit | |||
| 35 | 15039973_DD9601631 | 46, XY, inv(7)(p15.1p21) | reproductive difficulties | p21 | p15.1 | 15039973 | DD9601631 | Edit | |||
| 36 | 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 | |||
| 37 | 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 | |||
| 38 | 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 | |||
| 39 | MCN_19970006-281 | 46, XY, inv(7)(p15.2q35) | Infertility | p15.2 | q35 | MCN ID: 19970006-281 | www.mcndb.org | Edit | |||
| 40 | 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 | |||
| 41 | 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 | |||
| 42 | 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 | ||
| 43 | 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 | |||
| 44 | 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 | ||
| 45 | 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 | |
| 46 | 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 | ||
| 47 | 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 | ||
| 48 | 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 | ||
| 49 | 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 | |||
| 50 | 2002483_mother | 46, XX, inv(7)(p15q36) | phenotypically normal | p15 | q36 | 2002483 | mother | mother of 2002483_proband | Edit | ||
| 51 | 9029678 | 46, XX, inv(7)(p15q31) | multiple recurrent abortions | p15 | q31 | 9029678 | Edit | ||||
| 52 | 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 | ||
| 53 | 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 | |||
| 54 | 15039973_DD7600800 | 46, XY, inv(7)(p15q22) pat | abnormal phenotype | p15 | q22 | 15039973 | DD7600800 | Edit | |||
| 55 | 3376998_30F | 46, XX [13]/ 46, XX, inv(7)(p14q35) [1] | multiple spontaneous abortion | p14 | q35 | 3376998 | 30 year-old female | Edit | |||
| 56 | 3538996_DI1b | 46, XY, inv(7)(p14q21.3) | phenotypically normal; wife had recurrent abortions | p14 | q21.3 | 3538996 | DI1b | Edit | |||
| 57 | 3538996_CH1 | 46, XY, inv(7)(p14q21.3) mat | abnormal phenotype | p14 | q21.3 | 3538996 | CH1 | mother had same inversion | Edit | ||
| 58 | 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 | ||
| 59 | 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 | ||
| 60 | 3538996_ST2a | 46, XY, inv(7)(p14q11) | phenotypically normal; wife had abortion | p14 | q11 | 3538996 | ST2a | son had same inversion | Edit | ||
| 61 | MCN_19850008-114 | 46, XY, inv(7)(p14q22.2) | ambiguous genitalia | p14 | q22.2 | MCN ID: 19850008-114 | www.mcndb.org | Edit | |||
| 62 | 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 |
| 63 | 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 | ||
| 64 | 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 | ||
| 65 | 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 | ||
| 66 | 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 | ||
| 67 | 6235485_lab46_inv(7) | 46, X?, inv(7)(p13q11) mat | phenotype not given | p13 | q11 | 6235485 | balanced autosomal rearrangement from lab 46 | amniocentesis | Edit | ||
| 68 | 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 | |||
| 69 | 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 | |||
| 70 | 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 | |||
| 71 | 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 | |||
| 72 | 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 | ||
| 73 | 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 | |||
| 74 | 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 | ||
| 75 | 15039973_DD0200787 | 46, XX, inv(7)(p13q11.23) de novo | abnormal phenotype | p13 | q11.23 | 15039973 | DD0200787 | Edit | |||
| 76 | 15039973_DD8604904 | 46, XX, inv(7)(p13q22) mat | phenotype not given; prenatal diagnosis was done | p13 | q22 | 15039973 | DD8604904 | Edit | |||
| 77 | 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 | |
| 78 | 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 | |
| 79 | Unpublished_17298 | 46, XY, inv(7)(p12p22) | unknown phenotype | p12 | p22 | 17298-AFC | data unpublished | Edit | |||
| 80 | 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 | ||||
| 81 | 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 | ||
| 82 | 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 | ||
| 83 | 3538996_ST2b | 46, X?, inv(7)(p12q35) de novo | abnormal phenotype | p12 | q35 | 3538996 | ST2b | Edit | |||
| 84 | 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 | |
| 85 | 12384779_AG | 46, XY, inv(7)(p11.2q11.21) | Russell-Silver syndrome | p11.2 | q11.21 | D7S1618/ D7Z2 | D7Z1/ sWSS3627 | 12384779 | AG | Edit | |
| 86 | 12384779_AM | 46, XX, inv(7)(p11.2q22) | post-natal growth retardation | p11.2 | q22 | D7S1618/ GDB:1317186 | D7S477/ D7S518 | 12384779 | AM | Edit | |
| 87 | 12384779_PW | 46, inv(7)(p11.2q36) | post-natal growth retardation | p11.2 | q36 | D7S1618/ D7Z2 | 12384779 | PW | Edit | ||
| 88 | 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 | |||
| 89 | MCN_19960001-023 | 46, XX, inv(7)(p11q12) | precocious puberty, generalised obesity | p11 | q12 | MCN ID: 19960001-023 | www.mcndb.org | Edit | |||
| 90 | 15039973_DD8202794 | 46, XX, inv(7)(p11q22) pat, inv(1)(q25q42) pat | abnormal phenotype | p11 | q22 | 15039973 | DD8202794 | Edit | |||
| 91 | Unpublished_14010 | inv(7) [paracentric inversion] | polycystic kidney disease | pter | qter | 14010 | data unpublished | Edit | |||
| 92 | 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 | ||
| 93 | 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 | |||
| 94 | 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 | ||
| 95 | 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 | ||
| 96 | 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 | ||
| 97 | 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 | ||
| 98 | 6463033_UK16 | 4?, X?, inv(7)(q11q22) | phenotype not given | q11 | q22 | 6463033, 7717416 | lab UK16 [6463033] | prenatal diagnosis | Edit | ||
| 99 | 6235485_lab48 | 46, XX, inv(7)(q11q22) pat | phenotype not given | q11 | q22 | 6235485, 7717416 | balanced autosomal rearrangement from lab 48 [6235485] | amniocentesis | Edit | ||
| 100 | ECACC_89041152 | 46, XY, inv(7)(q11q34) | phenotype not given | q11 | q34 | 89041152 (cell line: HH0107) | www.ecacc.or.uk | Edit | |||
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