Description:
CHROMOSOME DELETION
WAARDENBURG-SHAH SYNDROME
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases 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
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
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Black/African American
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,del(13)(pter>q21.1::q31.1>qter)
|
Species
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Homo sapiens
|
Common Name
|
Human
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
|
Cytogenetics |
Chromosome 13: DELETION Aneuploid Segment (-)(13q21>13q31) |
|
Chromosome 13: DELETION Aneuploid Segment (-)13q21.1>13q31.1 |
Remarks |
Isochromia; possible hearing loss; Hirschsprung disease type 2 as part of Waardenburg-Shah syndrome |
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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