| Autor: |
Chernykh VB, Chukhrova AL, Vasserman NN, Il'ina EV, Karmanov ME, Fedotov VP, Poliakov AV |
| Jazyk: |
ruština |
| Zdroj: |
Genetika [Genetika] 2008 Feb; Vol. 44 (2), pp. 236-41. |
| Abstrakt: |
Molecular genetic analysis was performed for 26 phenotypically male patients lacking the Y chromosome in the karyotype. The sex-determining region Y (SRY) gene was found in 77% of the patients. PCR analysis of Y-specific loci in the 17 SRY-positive patients revealed Yp fragments varying in size in 16 cases and cryptic mosaicism (or chimerism) for the Y chromosome in one case. The frequencies of class I, II, and III (Yp+)XX sex reversals were 18.75, 25.25, and 56%, respectively. All of the class III (Yp+)XX sex-reversed patients had a 3.5-Mb paracentric inversion flanked by inverted repeats 3 (IR3) on the short arm of the Y chromosome. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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