Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Clinical summary/Case history
|
ISCN
|
46,X,del(Y)(pter>q11:)[42]/45,X[8]
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
13 |
|
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 Y: DELETION Aneuploid Segment (-)Yq11>Yqter |
|
Chromosome Y: DELETION Aneuploid Segment (0)Yq11>Yqter |
Remarks |
Mixed gonadal dysgenesis; ambiguous external genitalia; psychosomatic retardation; H-Y antigen positive; 84% have del(Y); breakpoint is probably q(11) |
Passage Frozen |
13 |
Split Ratio |
1:1 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|