Description:
XX MALE SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Gonadal Dysgenesis |
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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
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,t(10;11)(10pter->10q21::11p13->11pter;10qter->10q21::11p13->11qter)[4]/46,XX[21].arr(1-22,X)x2
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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 |
6.73 |
| Passage Frozen |
6 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
Nishioka and Lamothe (Am J Med Genet 27:711-717,1987) reported that DNA from this 46,XX male cell line failed to hybridize to a 3.4 kb Y chromosome repetitive sequence DNA probe (LA26). |
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| TESTIS DETERMINING LOCUS |
Muller et. al. (Nucleic Acids Res.14:6489,1986) reported that DNA from these fibroblasts did not hybridize Y-chromosome-specific DNA probes mapping near to the putative testis determining locus. Verga and Erickson (Am J Hum Genet 44:756-765,1989) used pulsed-field gel electrophoresis (PFGE) to study the short arm of the Y chromosome by using a pseudoautosomal probe (MIC2Y) and adjacent Y-specific sequences 27a and 47z (DSXY5) in XX males and XY females. In addition, the authors utilized the probe pDP1007 which was cloned from the putative sexdetermining locus on the Y chromosome (ZFY). This culture, from an XX male, did not have any of the Y-specific fragments detectable using conventional or pulsed-field gel electrophoresis. |
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| Remarks |
Phenotypically male; G6PD type B; Xg(a) antigen pos; DNA from fibros does not hybridize Y-chromosome-specific DNA probes mapping near to the putative testis determining locus; gene dosage studies consistent with 2 copies of STS |
| Mohandas TK, Stern HJ, Meeker CA, Passage MB, Muller U, Page DC, Yen PH, Shapiro LJ, Steroid sulfatase gene in XX males. Am J Hum Genet46:369-76 1990 |
| PubMed ID: 2301402 |
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| 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 |
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| Nishioka Y, Lamothe E, Isolation of human Y chromosomal major repetitive sequences from a flow- sorted Y chromosomal library. Am J Med Genet27:711-7 1987 |
| PubMed ID: 3631141 |
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| Muller U, Donlon T, Schmid M, Fitch N, Richer CL, Lalande M, Latt SA, Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res14:6489-505 1986 |
| PubMed ID: 3748818 |
| Passage Frozen |
6 |
| 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 |
- |
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