Description:
RETINOBLASTOMA, SPORADIC
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 |
Ophthalmologic Disorders |
| 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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Family Member
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4
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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,X,t(X;13)(Xpter>Xq23::13q13>13qter; 13pter>13q13::Xq23>Xqter)
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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 |
| |
| Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13q13 t(X;13)13q13 |
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Chromosome X: TRANSLOCATION Breakpoint Xq23 t(X;13)Xq23 |
| Remarks |
46,X,t(X;13)(Xpter>Xq23::13q13>13qter; 13pter>13q13::Xq23>Xqter); affected; at age 9 mo was in <5th %ile for length, weight, & head circumference; lethargic, generally decreased tone, & weak cry; developmental delay |
| Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond GD, Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst81:370-374 1989 |
| PubMed ID: 2915374 |
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