Description:
DUPLICATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities dbGaP |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,dup(15)(q11.2q13).ish dup(15)(q11.2q13)(D15Z1++,D15S11++,GABRB3++).arr 15q11.2q13.1(20224750-26733785)x4
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
|
Remarks |
Developmental delay; autistic features, but does not meet criteria for autism on ADI-R |
Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
PubMed ID: 23665875 |
|
Parokonny AS, Wang NJ, Driscoll J, Cuccaro M, Wolpert C, Malone BM, Schanen NC, Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13 American journal of medical genetics Part A143A:2473-7 2007 |
PubMed ID: 17853460 |
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