Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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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White
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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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45,XX,dic(13;14)(13qter>13p11.2:: 14p11.2>14qter)
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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 and by Chromosome Analysis |
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| Remarks |
Thrombocytopenia that progressed to aplastic anemia; a brother with the same translocation has persistent thrombocytopenia; 6 other family members with the same translocation have no hematologic disorder |
| Page SL, Shin JC, Han JY, Choo KH, Shaffer LG, Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation. Hum Mol Genet5(9):1279-88 1996 |
| PubMed ID: 8872467 |
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| Nowell P, Besa E, Emanuel B, Pathak S, Finan J, Two adult siblings with thrombocytopenia and a familial 13;14 translocation. Cancer Genet Cytogenet11:169-74 1984 |
| PubMed ID: 6692337 |
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