NA05382
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
2
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,t(7;18)(7pter>7q36::18q12.2> 18qter;18pter>18q12.2::7q36>7qter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
8 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 18: TRANSLOCATION Breakpoint 18q12 t(7;18)18q12 |
|
Chromosome 7: TRANSLOCATION Breakpoint 7q36 t(7;18)7q36 |
| Remarks |
Clinically normal; proband not in Repository; unbalanced child showed mental retardation, developmental delay, seizures, dysmorphic facial features, syndactyly, and optic atrophy |
|
|