The Chromosome 7 Annotation Project
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Chromosome 7 Clinical table -- Search Results

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# Unique IDKaryotypePhenotypeCytogenetic Break FromCytogenetic Break ToMolecular Breakpoint #1Molecular Breakpoint #2Pubmed IDPatient ID          Comments          
1 12058345_AU044 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 GDB:1317384/ D7S2017   12058345 Family AU044 deletion size 183 kb Edit
2 12058345_AU098 46, XY, del(7)(p22.2p22.2) [not visible] autism p22.2 p22.2 D7S472/ D7S1939   12058345 Family AU098 deletion size 96 kb Edit
3 23765050_28 46,X?.arr 7p22.2p21.3(3,612,717-8,278,5 10)x3 autism p22.2 p21.3     23765050 Subject 28 ~4.67 Mb duplication includes FOXK1 Edit
4 12058345_AU026 46, XX, del(7)(p22.1p22.1) [not visible] autism/ pervasive developmental disorder (PDD) p22.1 p22.1 D7S472/ D7S517   12058345 Family AU026 69-kb deletion containing D7S517 Edit
5 18475318 46,XY,t(7;16)(p22;p11)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-730B22   18475318     Edit
6 20414355; 18475318 46,XY,t(7;16)(p22;p11.2)de novo autism, psychomotor retardation, frequent crying, sleep disturbances, brain CT scan revealed cerebellar megacysterna in posterior fossa and temporal arachnoidal cyst p22.1   RP11-152I5 RP11-730B22 20414355; 18475318   discussion of Q6NUR6 (RNF216L) as candidate gene Edit
7 23765050_14 46,X?.arr 5q22.2(112,270,214-112,315,4 53)x1,7p22.1(4,735,218-4,908,0 23)x3 [hg18] autism p22.1 p22.1     23765050 Subject 14 ~200 kb duplication includes RADIL, PAPOLB, FOXK1, KIAA0415 Edit
8 19086034 46,XY,t(5;18)(q33.1;q12.1)de novo [del(7)(p21.3p21.3), dup(14)(q11.2q11.2), dup(17)(q21.31q21.31) CNV's detected by microarray] autism, psychomotor retardation, very minor dysmorphic features p21.3 p21.3     19086034, 15266626 MCN ID: 20040001-023 ~19Kb deletion, www.mcndb.org Edit
9 21480499_0100 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] autism, language problems, developmental delay, sensory problems, hyperactivity, large head circumference, intellectual disability p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0100, maternal cousin of 0101 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
10 21480499_0101 4?,XY arr 7p21.3(8,144,214–8,497,4 30)x3 mat,15q24.1(72,536,068–72,5 47,876)x3 mat [hg18] ASD, ADHD, depressive disorder, reading disability, dental misalignment, articulation and oral motor problems, awkward gait, overly acute hearing p21.3 p21.3 rs17330124/r s3807843 rs10486229/r s6959225 21480499 17122-0101, maternal cousin of 0100 ~349kb duplication; NXPH1, ICA1 discussed as candidate genes; sibling with autism, maternal uncle has autistic features Edit
11 Unpublished_25239 46, XX, inv(7)(p21.2;q22.1) autism, psychosis p21.2 q22.1 G248P8726D9 RP11-110G9 25239 updated Nov/07 Edit
12 17363630_AU072203 del(7)(p21.1p21.1) [CNVs detected by CGH] autism p21.1 p21.1     AU072203 de novo CNVs containing one gene FLJ16237; ~0.15 Mb deletion Edit
13 20473310_SK0443-003 4?,XY.arr (6p12.3)x3,( 7p21.1)x1 autism p21.1 p21.1 HDAC9   20473310 SK0443-003 ~4.8 kb loss Edit
14 8362388_2 46, XY, der(7)del(7)(p21)inv(7)(p13p21) autism p21 p13     8362388, 9813777, 11733747     Edit
15 MCN_19950001-114 46, XY, t(2;7)(p21;p15.3) mental retardation, everted/protuding lips, autism, abnormal ear shape/structure, anteverted/prominent/b at ears, seizures p15.3       MCN ID: 19950001-114 www.mcndb.org Edit
16 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
17 Unpublished_14283 46, XY, t(5;7)(p15;p13) autism/pervasive developmental disorder (PDD) p13       14283 data unpublished Edit
18 18252227_SK0152-003 373J21-), del(7)(p15.3p21.1)(RP11-445O1-,R P11- Autism Spectrum Disorder, LOF 31, moderate/severe receptive/expressive language delay, severely unintelligible speech, moderate repetitive behaviour, hypotonia affecting FM & GM development p13       18252227 SK0152-003   Edit
19 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
20 15733271_1 46, XY, inv(3)(p24q24), t(5;7)(p15.2;p12.2). ish del(3)(p24.3p24.3)(RP11-255O19-), del(5)(p15.2p15.31)(RP11-79G1-, RP11-91M12-), del(18)(q12q12)(RP11-90B5-) de novo autism, developmental delay, hypotonia, seizures, mild dysmorphism p12.2       15733271 Subject 1 older sister (Subject 2) had autism, but normal karyotype Edit
21 NIGMS_GM13732 46, XY, t(7;15)(p11;p11). ish t(7;15)(D7Z1+, D15Z-; D15Z+, D7Z1-) atypical hypotonia cerebral palsy; mental retardation; delayed gross motor skills; loss of language skills at about 1 year of age; IQ is 30; exhibits some signs of autism p11       GM13732 (family 1634, proband) lymphoblast (EBV-transformed) from CCR: NIGMS Human Genetic Cell Repository Edit
22 8362388_1 46, XY, der(7)del(7)(p21) inv(7)(p13p21) autism pter p21     8362388, 9813777, 11733747     Edit
23 ECACC_93080511 46, XX, mar(7) developmental delay, autism pter qter     93080511 (cell line: CC0096) www.ecacc.or.uk Edit
24 MCN_19820001-004 46, XY, t(7;18)(p?;q?) mental retardation, autism, behaviour disorder/hyperactivity/p sychosis pter p10     MCN ID: 19820001-004 www.mcndb.org Edit
25 Vinkler_ESHG2006 46, XY, upd(7) pat Russell-Silver syndrome, autism, severe developmental delay pter qter       Vinkler et al., ESHG, 2006, P0259 Edit
26 Sahoo_ASHG2006 del(7)(p14.1) autism pter p14.1       Sahoo et al., ASHG 2006, Program # 822 Edit
27 9545097_+r(7) mos +r(7) autism pter qter     9545097     Edit
28 9545097_r(7) mos +r(7) autism pter qter     9545097     Edit
29 Unpublished_9175_2 46, XX, del(7)(q32q34?), dup(7q) autism, partial sacral agenesis, tethered cord, lipoma of the conus, rectal duplication cyst, bifid clitoris, single upper incisor, bilateral sensorineural hearing loss, developmental delay, bilateral simian creases q10 qter     9175 data unpublished Edit
30 3671832 46, X?, t(7;20)(q11.2;p11.2) autism, mental retardation q11.2   AFM238zc9/ RH36552   3671832, 12160723, 11733747 twins, REF. 99 [11733747]   Edit
31 Cope_IMFAR2005 46, XY, del(7)(q11.21q11.23), dup(15)(q11.1q11.2) Williams syndrome, autism, no speech q11.21 q11.23       International Meeting for Autism research, 2005, P4A. 1.4 Edit
32 16861145 46, XY, del(7)(q11.21q11.23) Williams syndrome, autism, psychomotor development delay, no speech (10 single words at age 12), tricuspid insufficiency q11.21 q11.23     16861145 EK ELN deleted [FISH]; aunt and uncle had motor developmental delay Edit
33 Unpublished_38842 46,XY,t(7;13)(q11.21;p11.2) Autism Spectrum Disorder q11.21       SK0374-003   Edit
34 16840569_16 46, XX, del(7)(q11.22q11.23) de novo autism (DMS-IV), Williams syndrome, normal growth, hypospadias, motor developmental delay, language delay, dorsolumbar scoliosis, dysmorphic features (anteverted nares, long philtrum, malar hypoplasia, narrow palate) q11.22 q11.23 RP4-635O5/ RP11-313P13 AC004883/ RP11-107L23 16840569 case 16 deletion of maternal origin Edit
35 19246517_AUT96 46,XY.arr 3q21.3(131,845,264-131,974,3 45)x3,7q11.22(69,630,362-69,9 55,721)x3 autism, severe mental retardation, aggressive behaviour, occasional self-injurious behavior q11.22 q11.22   RP11-575M4 19246517 AUT96 ~325.3kb duplication includes AUTS2 Edit
36 Vergult_Genomic Disorders 2010 46, XX,t(7;22)(q11.22;q12.1) developmental delay, hypotonia, feeding problems, failure-to-thrive (too young to evaluate for autism) q11.22   AUTS2     Vergult et al., Genomic Disorders 2010 Edit
37 Unpublished_18081 46, XY, del(7)(q11.23q11.23) [not visible] Williams syndrome, symptoms of autism q11.23 q11.23 D7S672/ D7S489_B D7S489_A/ D7S675 18081 data unpublished Edit
38 Verloes_ASHG2004 46, X?, del(7)(q11.23q11.23) [detected by FISH] autism, Williams syndrome, severe mental retardation, no speech, sleep disorder, toe walk, no heart defect q11.23 q11.23 CALN1/ FKBP6 GTF2I$/ HIP1 case 1 & 2 1.3 Mb deletion; Verloes et al., ASHG 2004, Program #710 Edit
39 16470794_2 46, XX, del(7)(q31.2q32.2)(D7S486-, D7S522-) de novo, WBS inv-2 speech-language disorder (developmental verbal dyspraxia), autism-like, dysmorphic features, mild developmental delay, unable to cough/sneeze/l augh spontaneously q11.23 q11.23 LIMK1/ CYLN2 HIP1/ POR$ 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
40 16971481 46, XX. [del(7)(q11.23q11.23) de novo was detected by microarray] autism, cognitive-behavioral profile of Williams syndrome (no classical medical & physical features of WS), moderate mental retardation q11.23 q11.23 GTF2IRD1 UPK3B/ KIAA1505 16971481, 18565486 case 41A [16971481], case 9 [18565486] ~2.4 - 2.8 Mb deletion; centromeric breakpoint lies within intron 1 of GTF2IRD Edit
41 19752158 46,XY.arr 7q11.23(72,335,939-73,584,0 41)x4 features of autism, developmental delay, severe retardation in language and speech, behaviouralproblems, square face, broad forehead, short palpebral fissures, thin eyebrows, broad nasal bridge, small alae nasi, thin lips,retrognathia, Duane anomaly of left eye, bilateral single palmar creases, fifth toe clinodactyly, shawl scrotum q11.23 q11.23     19752158   ~1.25 MB triplication Edit
42 12058345_AU018 46, XY, del(7)(q21.13q21.13) [not visible] autism/ pervasive developmental disorder (PDD) q21.13 q21.13 RH12139$/ G12860   12058345 Family AU018 - father (AU01802), two sons (AU01803, AU01804) deletion size 57 kb; AU01803 had autism, and AU01804 had PDD Edit
43 7961336 46,XY,t(1:7)(p22;q21)pat autism, childhood-onset schizophrenia, significant speech and language delay, monotonic speech with echolalia, agitation and rambling, disorganized speech, delusions, auditory and tactile hallucinations q21.13   RP11-248A17/R P5-1121E10   17879154 REFS.102,103 [Folstein & Rosen-Sheidley, 2001] transmitted from paternal grandfather, co-segregated with other psychopathologies Edit
44 10552924_III-1_2 46,XY,inv(7)(q22q31.2)mat.arr 7q21.3(97,228,569-97,240,4 23)x3 mat autism, developmental delays q21.3 q21.3     19877165, 11733747, 10552924 III-1 (Family 7543) [10552924], REF. 104 [11733747] ~12kb duplication present in twin sibs - brother (10552924_III-2) has autism and sister (10552924_III-3) has expressive language disorder; mother carries duplication but does not have AD, has features of avoidant personality disorder; *Skaar et al., 2003, Am J Hum Genet 73(Suppl): 519 Edit
45 10552924_III-2_2 46,XY,inv(7)(q22q31.2)mat.arr 7q21.3(97,228,569-97,240,4 23)x3 mat autism, developmental and speech delay q21.3 q21.3     19877165, 11733747, 10552924 III-2 (Family 7543) [Ashley-Koch et al., 1999 ], REF. 104 [Folstein & Rosen-Sheidley, 2001] ~12kb duplication present in brother (10552924_III-1) has autism and twin sister (10552924_III-3) has expressive language disorder; mother carries duplication but does not have AD, has features of avoidant personality disorder; *Skaar et al., 2003, Am J Hum Genet 73(Suppl): 519 Edit
46 10190335_2 46, XY, t(7;12)(q21.4;q15) de novo autism, mental retardation, seizures, hyperactivity; speech defect; hearing abnormal; abnormal ears, deep set eyes, abnormal dentition q21.4       10190335 case 2 [10190335] , MCN ID:19800002-001 www.mcndb.org Edit
47 Unpublished_16704 46, XY, t(6;7)(p11.2;q22) phenotypically normal, father of autism patient q22       16704 father of Unpublished_16724; data unpublished Edit
48 10552924_III-1 46, XY, inv(7)(q22q31.2) mat autism q22 q31.2 RP11-316A24   10552924, 11733747 III-1 (family 7543) [10552924], REF. 104 [11733747] inversion between D7S477 and D7S496 (ASHG2003, #2051); affected twin sibs - brother (10552924_III-2) has autism, sister (10552924_III-3) has expressive language disorder; mother carries inversion but does not have AD Edit
49 10552924_III-2 46, XY, inv(7)(q22q31.2) mat autism q22 q31.2 RP11-316A24   10552924, 11733747 III-2 (family 7543) [10552924], REF. 104 [11733747] inversion between D7S477 and D7S496 (ASHG2003, #2051); brother (10552924_III-1) has autism, twin sister (10552924_III-3) has expressive language disorder; mother carries inversion but does not have AD Edit
50 10552924_III-3 46, XX, inv(7)(q22q31.2) mat expressive language disorder q22 q31.2     10552924 III-3 (family 7543) [10552924] brother (10552924_III-1) and twin brother (10552924_III-2) have autism; mother carries inversion but does not have AD Edit
51 MCN_19890003-032 46, XY, t(2;7)(p13;q22) de novo mental retardation, autism q22       MCN ID:19890003-032 www.mcndb.org Edit
52 Unpublished_28400 46, XX, inv(7)(?q22) mat autism, mild elevation of lactate q22 ?     28400 data unpublished; unaffected mother (28401) and twin sister with tetralogy of Fallot & malrotation had same inversion Edit
53 18496206 46,XY,t(6;7)(p11-p12;q22) autism, severe mental retardation, non-verbal, developmental delay, episodes of extremely violent behaviour, sleep disturbance, submucous cleft palate, wide-set eyes, long philtrum, bifid uvula, coarse facial features with prominent brow and mild synorphoris, long down slanting palpebral fissures, small ears, full lips, broad lateral palatine ridges, pigmented macular lesion on left cheek, occipital midline mass q22   RP11-157M10/G 248P87576C5   18496206 propositus father has same karyotype, affected with learning and behavioural problems, discussion of NPTX2 and TMEM130 as candidate genes Edit
54 Choufani_ASHG2004 46, XY, t(6;7)(p12;q22) pat autism, mental retardation, completely non-verbal, dysmorphic features q22.1   G248P87576C5   12690205 16724 son of Unpublished_16704; Choufani et al., ASHG 2004, Program #873 Edit
55 Wolpert_ASHG2001 inv(7)(q22.1q31.2) autism q22.1 q31.2       4 members had inv(7) in one family, but only two male children met the criteria for autism (ADI-R) Edit
56 10552924_III-1_1 46,XY,inv(7)(q22q31.2)mat.arr 7q21.3(97,228,569-97,240,4 23)x3 mat autism, developmental delays q22.1 q31.2 RP11-977H6, RP11-316A24 RP11-21G9, RP11-698J23 19877165, 11733747, 10552924 III-1 (Family 7543) [10552924], REF. 104 [11733747] inversion between D7S477 and D7S496; affected twin sibs - brother (10552924_III-2) has autism, sister (10552924_III-3) has expressive language disorder; mother carries inversion but does not have AD, has features of avoidant personality disorder; *Skaar et al., 2003, Am J Hum Genet 73(Suppl): 519 Edit
57 10552924_III-2_1 46,XY,inv(7)(q22q31.2)mat.arr 7q21.3(97,228,569-97,240,4 23)x3 mat autism, developmental and speech delay q22.1 q31.2 [RP11-977H6], [RP11-316A24] [RP11-21G9], [RP11-698J23] 19877165, 11733747, 10552924 III-2 (Family 7543) [Ashley-Koch et al., 1999 ], REF. 104 [Folstein & Rosen-Sheidley, 2001] inversion between D7S477 and D7S496; brother (10552924_III-1) has autism, twin sister (10552924_III-3) has expressive language disorder; mother carries inversion but does not have AD, has features of avoidant personality disorder; *Skaar et al., 2003, Am J Hum Genet 73(Suppl): 519 Edit
58 8135285 46, XY, dup(7)(q22q34) de novo autism, growth and mental retardation, developmental delay, no speech, frontal and parietal bossing, deep-set eyes, starbismus, bilateral optic nerve hypoplasia, mild dilatation of the cerebral ventricles q22.3 q35 RP11-361C14/ RP11-89M2 RP4-669B10/ RP11-79M8 8135285, 11531975, 12818530 26294 [unpublished] molecular data unpublished Edit
59 Mikhailov_ASHG2008 46,XY,t(5;7)(q14;q31)de novo autism q31         Mikhailov et al., ASHG2008, Program #1856, discussion of KCND2 as candidate gene Edit
60 17033973_3 46, XY, del(7)(q31.1q31.32) autism, craniosynostosis, developmental verbal dyspraxia, motor delay q31.1 q31.32 RPCI-11-393L14 RPCI-11-209B10/ RPCI-11-97M03 17033973 patient 3, 24784 11-Mb deletion of paternal origin; no TWIST mutations found; younger brother has language delay, and cousins have slow speech Edit
61 18252227_SK0083-003 46,XY,del(7)(q31.1q31.31)de novo Autism Spectrum Disorder, IQ/LOF 56, severe language delay, severely unintelligible speech, mild repetitive behaviour, severe dysmorphism, febrile seizures q31.1 q31.31 108200381 (NCBI Build 35) 119223887 (NCBI Build 35) 18252227 SK0083-003 CNVs containing 25 genes; ~ 11.0 Mb deletion Edit
62 18252227_SK0131-003 46,XX,del(7)(q31.1q32.2)de novo Autism Spectrum Disorder, IQ/LOF 74, moderate/severe receptive/expressive language delay, moderate speech impairment, moderate repetitive behaviour, severe dysmorphism, microcephaly q31.1 q32.2 113335000 (NCBI Build 35) 128821721 (NCBI Build 35) 18252227 SK0131-003 CNVs containing >50 genes; ~ 15.4 Mb deletion Edit
63 20346443_1 4?,XY.arr 2q14.3(124,836,663-125,063,8 27)x1 pat,7q31.1(110,666,487-111,256,8 08)x1 mat autism, reading/spelling difficulties q31.1 q31.1 rs37713/rs37715 rs6966622/rs10238664 20346443 15-0084-003, proband ~590kb deletion, NCBI Build 36; discussion of IMMP2L & DOCK4 as candidate genes Edit
64 20346443_2 46,XY.arr 2q14.3(124,829,445-125,111,2 65)x1 pat,7q31.1(110,254,457-111,266,3 60)x1 mat autism, dyslexia q31.1 q31.1 rs10279573 rs7783121 20346443 15-0084-004, sibling of 15-0084-003 ~1Mb deletion, NCBI Build 36; discussion of IMMP2L & DOCK4 as candidate genes Edit
65 23765050_29 46,X?.arr 7q31.1(110,858,721-110,981,4 69)x1 [hg18] autism q31.1 q31.1     23765050 Subject 29 ~122 kb deletion includes IMMP2L Edit
66 Unpublished_18667 46, XX, t(7;11)(q31.2;q25) mat autism q31.2   AC092062   12690205 18667 daughter of Unpublished_18669 Edit
67 16470794_1 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 q31.2 q32.2 D7S471/ CIT-D-2023N18 RP11-35B6/ D7S530 16470794, 17033973 13583; patient 4 [17033973] 15-Mb deletion of paternal origin; 51 known genes deleted, including FOXP2, CFTR, CORTB2, KCND2, CADPS2, SPAM1, GRM8 and PAX4; Zeesman et al., ASHG2004, Program #738 Edit
68 17033973_18 46, XY, del(7)(q31.2q32) de novo developmental delay, no speech, autism spectrum disorder, simian creases on the hands, chronic reflux, drooling, chronic ear infections, upper respiratory problems q31.2 q32 D7S518/ RP11-1134K14 D7S490/ RP11-449N23 17033973 patient 18, 23145 26-Mb deletion of paternal origin Edit
69 18156158_HI0128 del(7)(q31.2q31.2),d up(16)(p11.2p11.2),d up(16)(q22.1q22.1)de novo [detected by microarray] autism, severe compulsions and rituals q31.2 q31.2     18156158 HI0128 1.0Mb deletion present in unaffected mother with depressive and anxiety symptoms, learning disabilities and behavioural problems Edit
70 10889047_11491 46, XY, t(7;13)(q31.3;q21) mat autism, language delay, cognitive and social developmental Delay q31.31   AC002542   10889047, 11707066, 11733747 11491 [10889047], HSC1 [11707066], REF. 47 [11733747] breakpoint probably occured between exon 9 and 10 of RAY1; unaffected mother has same translocation Edit
71 21626674 46,XY,inv(4)(p14;q21).arr (7q31.31q31.33)x1 de novo autism spectrum disorder, persistent hyperplastic primary vitreous, nystagmus, round face, low-set ears, broad eyebrows, hypertelorism, blepharophimosis, hypoplastic alae nasi, long philtrum, small mouth, abnormal MRI q31.31 q31.33     21626674   ~5.4 Mb deletion Edit
72 11707066_HSC2 46, XY, t(5;7)(q15;q31.32) autism, developmental delay q31.32   G248P87875F2/ G248P81265F9   11707066 HSC2 [11707066], 11550 molecular data unpublished; RPCI-11-642D23 and RPCI-11-722I21 spans the breaktpoint Edit
73 Unpublshed_Wheeler 46, XY, dup(7)(q31.32q34) autism q31.32 q34     11733747   data unpublished by Wheeler et al. Edit
74 15635069_C4 46, XY, inv(11)(p15.3p15.5) pat, t(7;13)(q31.3;q21.3) de novo. ish t(7;13)(384A20sp; 360I23sp) autism, developmental delay, epilepsy, learning difficulties, disordered speech and language q31.32   RP11-384A20   15635069 C4 [15635069], 122017 (cell line: DD3615); MCN ID: 19990001-002 www.ecacc.or.uk; www.mcndb.org Edit
75 19246517_AUT84 46,XY.arr 7q31.33q32.1(125,672,999-126,2 55,215)x3 autism, severe mental retardation, seizures, hyperekplexia or startle disease q31.33 q32.1     19246517 AUT84 ~582.2kb duplication includes GRM8 Edit
76 Unpublished_20552 46, XY, t(7;21)(q32;q22.3) de novo, 9ph autism q32       20552 data unpublished Edit
77 Unpublished_9175_1 46, XX, del(7)(q32q34?), dup(7q) autism, partial sacral agenesis, tethered cord, lipoma of the conus, rectal duplication cyst, bifid clitoris, single upper incisor, bilateral sensorineural hearing loss, developmental delay, bilateral simian creases q32 q34 D7S798/ D7S550 D7S468/ D7S2423 9175 data unpublished Edit
78 18675947 46,XX,del(7)(q33q36.1)de novo autism, neonatal hypocalcemic seizures, developmental delays, sleep difficulties, speech delay, two seizures at age 16, truncal obesity, coarse facial features, sunken eyes, hypertelorism, large nose, long and pronounced philtrum, large mouth, bilateral preauricular pits, long and slender fingers with proximally placed thumbs, primary amenorrhea, Tanner II breast development, diparesis and truncal ataxia, mild cerebellar hypoplasia, partial agenesis of the corpus callosum q33 q36.1     18675947 proband proximal breakpoint (chr7:137106034) lies in intron 1 of the CREB3L2 gene; distal breakpoint (chr7:149827313) lies within exon 3 of the GIMAP2 gene; ~12 Mb deletion; discussion of CNTNAP2 and NOBOX as candidate genes Edit
79 11803521 46, XX, t(5;7)(q14;q32-35) mat autism, motor delay q34   TAS2R3$/ TAS2R4$   11803521, 11733747 REF. 105 [11733747]; MCN ID: 20010001-024 healthy mother and younger twin sisters had same translocation; www.mcndb.org Edit
80 18252227_SK0190-003 dup(7)(q36.2q36.2) [CNVs detected by microarray] Autism Spectrum Disorder, IQ/LOF 55, severe receptive/expressive language delay, moderate speech impairment, mild repetitive behaviour q36.2 q36.2 152698000 (NCBI Build 35) 154478000 (NCBI Build 35) 18252227 SK0190-003 CNVs contain DPP6; ~ 1.8 Mb duplication; parents 1st cousins Edit
81 18252227_SK0115-003 dup(7)(q36.2q36.2) [CNVs detected by microarray] Autism Spectrum Disorder, IQ/LOF 86, moderate repetitive behaviour q36.2 q36.2 153098000 (NCBI Build 35) 153372000 (NCBI Build 35) 18252227 SK0115-003 (male) CNVs disrupt DPP6; ~ 0.27 Mb duplication Edit
82 18252227_SK0058-003 dup(7)(q36.2q36.2) [CNVs detected by microarray] Autism Spectrum Disorder, IQ/LOF 111, mild repetitive behaviour q36.2 q36.2 153539745 153556533 18252227 SK0058-003 (male) CNVs disrupt DPP6; ~ 0.17 Mb duplication Edit
83 18252227_NA0002-000 del(7)(q36.2q36.2)de novo [CNVs detected by microarray] Autism Spectrum Disorder, severe receptive/expressive language delay, severe repetitive behaviour q36.2 q36.2 153585000 (NCBI Build 35) 153651462 (NCBI Build 35) 18252227 NA0002-000 CNVs disrupt DPP6; ~ 0.7 Mb deletion Edit
84 Unpublished_20553 46, XX, t(7;13)(q36;q14.1) phenotypically normal; mother of child with autism and unbalanced t(7;13) q36.3   G248P85334D8   20553 data unpublished Edit