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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Ethnicity
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ITALIAN
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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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46,XY,t(8;14)(8pter>8q24.3::14q32.1> 14qter;14pter>14q32.1::8q24.3>8qter)
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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 14: TRANSLOCATION Breakpoint 14q32 t(8;14)14q32 |
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Chromosome 8: TRANSLOCATION Breakpoint 8q24 t(8;14)8q24 |
| Remarks |
Clinically normal father of a child with elevated cholesterol, colitis, small for gestational age at birth, widely opened anterior fontanelle, posteriorly rotated ears, & groove in philtrum |
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