Description:
XX MALE SYNDROME
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Gonadal Dysgenesis |
|
Cell Type
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Fibroblast
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|
Transformant
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Untransformed
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|
Race
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White
|
|
Family Member
|
2
|
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Relation to Proband
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father
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Confirmation
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Clinical summary/Case history
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|
Species
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Homo sapiens
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|
Common Name
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Human
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|
Remarks
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|
| PDL at Freeze |
2.34 |
| Passage Frozen |
11 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Remarks |
Transient gynecomastia at age 20; in leukocytes, 2 cells out of 50 showed 46, XY,inv(7)(p15q36), remainder were 46,XY |
| Verga V, Erickson RP, An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX male. Am J Hum Genet44:756-65 1989 |
| PubMed ID: 2705458 |
| |
| Page DC, de la Chapelle A, Weissenbach J, Chromosome Y-specific DNA in related human XX males. Nature315:224-6 1985 |
| PubMed ID: 2987697 |
| |
| Page DC, de la Chapelle A, The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms. Am J Hum Genet36:565-75 1984 |
| PubMed ID: 6328977 |
| |
| Chapelle AD, Schroder J, Murros J, Tallqvist G, Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet11:91-106 1977 |
| PubMed ID: 837567 |
| Passage Frozen |
11 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
|