Description:
FANCONI ANEMIA COMPLEMENTATION GROUP UNDETERMINED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| 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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Clinical summary/Case history
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ISCN
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46,XY
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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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Remarks |
Clinically affected; absent right thumb; bilateral radial hypoplasia; ectopic kidney; patent ductus arteriosus; bilateral optic nerve hypoplasia; microcephaly; duodenal web; increased chromosome breakage both stressed (MMC or AMD) and spontaneous. |
| Cohen NA, Egorin MJ, Snyder SW, Ashar B, Wietharn BE, Pan SS, Ross DD, Hilton J, Interaction of N,N',N''-triethylenethiophosphoramide and N,N',N''- triethylenephosphoramide with cellular DNA. Cancer Res51:4360-6 1991 |
| PubMed ID: 1714342 |
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