Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
|
B-Lymphocyte
|
Tissue Type
|
Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family Member
|
3
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,t(13;18)(13qter>13p13::18q12.2> 18qter;18pter>18q12.2::13p13>13pter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 13: TRANSLOCATION Breakpoint 13p13 t(13;18)13p13 |
|
Chromosome 18: TRANSLOCATION Breakpoint 18q12 t(13;18)18q12 |
Remarks |
Clinically normal |
Blattner, Clinical manifestations of familial 13:1 8 translocation. Am J Hum Genet30:74A (1978): 1978 |
PubMed ID: |
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