Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP
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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Asian
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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,XY,t(15;17)(q24;q21.3).ish t(15;17)(PML+,D15S936-,RARA-,D17S2200+;PML-,RARA+,D15S936+,D17S2200-).arr(1-22)x2,(XY)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 15: TRANSLOCATION Breakpoint 15q24 |
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Chromosome 17: TRANSLOCATION Breakpoint 17q21.3 |
| Remarks |
Developmental delay; tracheoesophageal fistual, surgically corrected; smaller left jaw; overbite; braces for malocculusion; right maxillary hypoplasia; anti-mongoloid slant; mild scoliosis; learning disabilities; auditory processing difficulty; fine/gross motor delay; bilateral hearing deficiency (conductive); narrow isthmus at the bony cartilagenous junction in the external canal; perilymph fistula? |
| 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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