NA06944
DNA from Fibroblast
Description:
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 |
10 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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1
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Relation to Proband
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parent
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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(21;22)(21qter>21p12::22q11.1> 22qter;22pter>22q11.1::21p12>21pter)
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Cytogenetics |
Chromosome 21: TRANSLOCATION Breakpoint 21p12 t(21;22)21p12 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(21;22)22q11 |
| Remarks |
Son has unbalanced translocation and Down Syndrome; see GM06943 Lymphoid |
| Cannizzaro LA, Aronson MM, Emanuel BS, In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations. Cytogenet Cell Genet39:173-8 1985 |
| PubMed ID: 3930156 |
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