NA00693
DNA from Fibroblast
Description:
TRISOMY 21
TRANSLOCATED CHROMOSOME
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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 |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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2
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Relation to Proband
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mother
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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,t(2;21)(2pter>2q37::21q21>21qter;21pter>21q21::2q37>2qter)
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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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| Passage Frozen |
5 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 2: TRANSLOCATION Breakpoint 2q37 t(2;21)2q37 |
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Chromosome 21: TRANSLOCATION Breakpoint 21q21 t(2;21)21q21 |
| Remarks |
Two daughters have the clinical features of Down syndrome, a son is mentally retarded, and 1 child is clinically normal |
| Jenkins EC, Devine-Gage EA, Robakis NK, Yao XL, Brown WT, Houck GE Jr, Wolfe G, Ramakrishna N, Silverman WP, Wisniewski HM, Fine mapping of an Alzheimer disease-associated gene encoding beta-amyloid protein. Biochem Biophys Res Commun151:1-8 1988 |
| PubMed ID: 3279948 |
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| Schmidt R, Mundel G, Rosenblatt M, Katznelson MB, Apparent G-monosomy, G-deletion, and incomplete Down's syndrome in a single family. J Med Genet9:457-61 1972 |
| PubMed ID: 4265014 |
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