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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4
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Relation to Proband
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second cousin
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Confirmation
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Molecular characterization after cell line submission to CCR
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ISCN
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46,XX
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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 |
5.9 |
| Passage Frozen |
4 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
Numabe et al (Hum Genet 90:211-214,1992) analyzed the DNA from this XX male cell culture with 17 different Y chromosome-derived DNA probes using Southern blot hybridization analysis and by the polymerase chain reaction for an additional 2 sites on the short arm of Y (PABY & SRY). A total of 25 loci were tested and yielded the following results: PABY +, SRY +, ZFY +, DXYS5 +, DXYS73Y +, DYF27B -, DYF27C -, DYS131B -, DYS7A/B -, DYS130 -, AMGL -, DYS7D -, DYS11 -, DYS140 -, DYS139 -, DYS133 -, DYS134 -, DYS132 -, DYS135 -, DYF27A -, DYS131A -, DYS7E -, DYS7C -, DYS1 -, & DYZ1 -. These findings confirmed those previously reported by Nakahori et al (Genomics 9:765-769,1991). |
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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. 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. |
| |
| Remarks |
46,XX; bilateral mild gynecomastia; average IQ; phenotypically male; DNA from fibroblasts hybridizes Y-chromosome-specific DNA probes mapping near to the putative testis determining locus |
| 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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| Numabe H, Nagafuchi S, Nakahori Y, Tamura T, Kiuchi H, Namiki M, Kohda N, Fukushima Y, Fuse H, Kusano M, et al, DNA analyses of XX and XX-hypospadiac males. Hum Genet90:211-4 1992 |
| PubMed ID: 1487232 |
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| Nakahori Y, Tamura T, Nagafuchi S, Fujieda K, Minowada S, Fukutani K, Fuse H, Hayashi K, Kuroki Y, Fukushima Y, et al, Molecular cloning and mapping of 10 new probes on the human Y chromosome. Genomics9:765-9 1991 |
| PubMed ID: 2037302 |
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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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| 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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| Daiger SP, Wildin RS, Su TS, Sequences on the human Y chromosome homologous to the autosomal gene for argininosuccinate synthetase. Nature298:682-4 1982 |
| PubMed ID: 7099264 |
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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 |
| Cumulative PDL at Freeze |
5.9 |
| Passage Frozen |
4 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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