Description:
TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Heritable Diseases Chromosome Abnormalities |
Class |
Other Disorders of Known Biochemistry |
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
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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
|
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,XY,+21[42]/47,XY,add(9)(?::p24>qter),+21[8]]
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
Remarks |
Clinical features of Down syndrome |
Lemieux N, Malfoy B, Forrest GL, Human carbonyl reductase (CBR) localized to band 21q22.1 by high- resolution fluorescence in situ hybridization displays gene dosage effects in trisomy 21 cells. Genomics15:169-72 1993 |
PubMed ID: 8432528 |
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