Description:
ISODICENTRIC CHROMOSOME
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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 |
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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
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Sample Source
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DNA from LCL
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Race
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XX,+idic(15)(q13),der(19)t(X;19)(q21;p13)[6]/46,XX,idic(15)(q13)[3]/46,XX,idic(15)(q13),r(8)[1].ish 8p23.3p23.3(D8S2333x2),8q24.3q24.2(VIJ2yRM2053x2).arr Xq21.33q28(95392004-153561333)x2˜3,4q35.1q35.2(182999117-191210542)x2˜3,15q11.1q13.3(18276328-30436012)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 |
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| Cytogenetics |
Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)15pter>15q13 |
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Chromosome X: ANEUPLOID Aneuploid Segment (+)Xq21.33>Xqter |
| Remarks |
Clinically affected; meets criteria for autism on ADOS-G on both social and communication scales; does not meet criteria for autism on ADI-R; methylation analysis at SNRPN locus shows duplication is of maternal origin. |
| 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 |
| View |
FISH Spectrum Green = D15Z1 ; Spectrum Orange = GABRB3 |
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FISH Spectrum Green = D15Z1 ; Spectrum Orange = GABRB3 |
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FISH Spectrum Green = D15Z1 ; Spectrum Orange = D15S11 |
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FISH Spectrum Green = D15Z1 ; Spectrum Orange = D15S11 |
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FISH Spectrum Green = 4qter ; Spectrum Orange = Xpter |
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FISH Spectrum Green = 4qter ; Spectrum Orange = Xpter |
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karyotype Spectrum Green = 4qter ; Spectrum Orange = Xpter |
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