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
|
2
|
Relation to Proband
|
parent
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,t(3;11)(3qter>3p21.3::11p14.2> 11pter;11qter>11p14.2::3p21.3>3pter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
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 11: TRANSLOCATION Breakpoint 11p14 t(3;11)11p14 |
|
Chromosome 3: TRANSLOCATION Breakpoint 3p21 t(3;11)3p21 |
Remarks |
Clinically normal; has had 1 daughter with the same translocation |
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