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  • Title: [Molecular analysis of the Y chromosome in XX sex-reversed patients].
    Author: Chernykh VB, Chukhrova AL, Vasserman NN, Il'ina EV, Karmanov ME, Fedotov VP, Poliakov AV.
    Journal: Genetika; 2008 Feb; 44(2):236-41. PubMed ID: 18619043.
    Abstract:
    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.
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