Description:
DERIVATIVE CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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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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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46,XX,der(6)t(Y;6)(p11.2;p24).ish der(6)t(Y;6)(p11.2;p24)(6PTEL48-,SRY+).arr Yp11.31p11.2(2710425-4401114)x1,6p25.3p24.3(94648-10140080)x1
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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 6: DERIVATIVE CHROMOSOME Aneuploid Segment (-)6pter>6p23 |
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Chromosome Y: DERIVATIVE CHROMOSOME Aneuploid Segment (-)(Yp11.2>Yqter) |
| Remarks |
Phenotypic male; karyotypically female; growth retardation; Dandy-Walker malformation; cardiac and urogenital abnormalities; bilateral hearing loss; cleft palate; severe kyphoscoliosis; minor digital anomalies; hypoplastic phallus; dolichocephaly; hypertelorism; down-slanting palpebral fissures; depressed nasal bridge; tented upper lip |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2022 |
| PubMed ID: 35039224 |
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| 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 |
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| Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A, Case report: Y;6 translocation with deletion of 6p Clinical dysmorphology14:93-6 2005 |
| PubMed ID: 15770132 |
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