Description:
XX MALE SYNDROME
DERIVATIVE CHROMOSOME
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| 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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Family Member
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1
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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.ish der(X)t(X;Y)(p22.3;p11.3)(SRY+,DXZ1+).arr Yp11.31p11.2(2710425-5680476)x1
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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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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| TESTIS DETERMINING LOCUS |
Muller et. al. (Nucleic Acids Res.14:6489,1986) reported that DNA from these fibroblasts hybridized 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 sex-determining locus on the Y chromosome (ZFY). This culture, from an XX male, was positive for the expected Y- and X-specific sequences. In addition, this XX male showed an extra PFGE fragment which was thought to represent a chromosomal polymorphism. Muller et al (Genomics 5:153-156,1989) investigated the Y-chromosomal DNA content of the DNA from this 46,XX male cell culture utilizing a number of Y-specific DNA probes. DNA from this culture hybridized some but not all of the probes. No hybridization was observed for probes Y-156, Y-190, and Y-223a which are specific for a proximal region of Yp containing a cluster of Y-specific moderately repeated DNA sequences. |
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| Remarks |
46,XX; phenotypically male; bilateral gynecomastia; DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus; gene dosage studies consistent with 2 copies of STS |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| 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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| Muller U, Lalande M, Donlon TA, Heartlein MW, Breakage of the human Y-chromosome short arm between two blocks of tandemly repeated DNA sequences. Genomics5:153-6 1989 |
| PubMed ID: 2548948 |
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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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| 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 |
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| Page DC, de la Chapelle A, Weissenbach J, Chromosome Y-specific DNA in related human XX males. Nature315:224-6 1985 |
| PubMed ID: 2987697 |
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| 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 |
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| 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 |
7 |
| Split Ratio |
1:5 |
| 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 |
- |
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