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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Family Member
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2
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Relation to Proband
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mother
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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(4;18)(4pter>4q35.1::18q22.1> 18qter;18pter>18q22.1::4q35.1>4qter)
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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 18: TRANSLOCATION Breakpoint 18q22 t(4;18)18q22 |
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Chromosome 4: TRANSLOCATION Breakpoint 4q35 t(4;18)4q35 |
| Remarks |
Phenotypically normal |
| Lovmar L, Fredriksson M, Liljedahl U, Sigurdsson S, Syvanen AC, Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res31(21):e129 2003 |
| PubMed ID: 14576329 |
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