Description:
TRANSLOCATED CHROMOSOME
AUTISTIC DISORDER
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| 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
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
47,XY,t(9;15)(9pter>9q32::15q22>15qter;15pter>15q22::9q32>9qter),+der(9)(9pter>9q32::15q22>15qter)[24]/46,XY,t(9;15)(9pter>9q32::15q22>15qter)[1]
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
| |
| Cytogenetics |
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment (+)15q22>15qter |
|
Chromosome 15: DERIVATIVE CHROMOSOME Aneuploid Segment 15q22 (+)15q22>15qter |
|
Chromosome 15: TRANSLOCATION Breakpoint 15q22 |
|
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9q32 |
|
Chromosome 9: TRANSLOCATION Breakpoint 9q32 |
| Remarks |
Clinically affected |
|
|