Description:
CHROMOSOME 5Q DELETION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17320 [CHROMOSOME 5Q DELETION SYNDROME] |
| 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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Ethnicity
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VENEZUELAN
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX[19]
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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 |
| |
| Remarks |
Venezuelan; pancytopenia and myelodysplasia: 46,XX in lymphoblast culture; 46, XX,del(5)(q21>qter) in bone marrow cells |
| Dunbar, Sequential treatment with recombinant human growth factors to compare activity of GM-CSF and IL3 in the treatment of primary myelodysplasia. Blood76S:141a (1990): 1990 |
| PubMed ID: |
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