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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Clinical summary/Case history
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ISCN
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46,XX,t(11;22)(11pter>11q23.3::22q11.23>22qter;22pter>22q11.23::11q23.3>11qter).ish t(11;22)(87F9+,ARSA+,VIJ22072-;D22S553+,D22S609+,D22S942+,N40+,ARSA-,VIJ22072+)
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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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| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q23 t(11;22)11q23 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(11;22)22q11 |
| Remarks |
Mother & maternal grandmother have the same balanced translocation; phenotypically normal with recurrent miscarriages |
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