Description:
XXY SYNDROME; KLINEFELTER SYNDROME
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
|
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
|
|
Ethnicity
|
NORTHERN EUROPEAN
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XXY[17].ish X (DXZ1x2).ish Y (SRYx1)/47,XYY[28].ish X (DXZ1x1).ish Y (SRYx2)/46,XY[5].ish X (DXZ1x1).ish Y (SRYx1)
|
|
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 |
| |
| Remarks |
Clinically affected; tall; clinodactyly of the left hand; high arches on feet; small penis; small testes, hypoplastic tubules, and diminished Leydig cells;mild myopia; removal surgery for gynecomastia; low energy and low sex drive; anxiety |
|
|