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  • Title: Mosaic ring Y chromosome in two normal healthy men with azoospermia.
    Author: Bertini V, Canale D, Bicocchi MP, Simi P, Valetto A.
    Journal: Fertil Steril; 2005 Dec; 84(6):1744. PubMed ID: 16359976.
    Abstract:
    OBJECTIVE: To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men. DESIGN: Case report. SETTING: Molecular genetics/cytogenetics unit in a university hospital. PATIENT(S): Two infertile men with azoospermia, presenting a normal male phenotype with complete masculinization. INTERVENTION(S): Karyotype and genetic counseling. MAIN OUTCOME MEASURE(S): Metaphases were studied by standard G- and Q-banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions. RESULT(S): Chromosomal analysis detected a mosaicism with a Y chromosome ring cell line in 92% (patient 1) and 95% (patient 2) of the metaphases, coexisting with a 45,X cell line in the remaining metaphases. In patient 1, PCR analysis showed the presence of AZFa region and a partial deletion of AZFb region; AZFc region was deleted. In patient 2 all three AZF regions were deleted. CONCLUSION(S): A 45,X/46,X,r(Y) mosaicism can be detected not only in patients with Ullrich-Turner syndrome and in patients with various degrees of genital ambiguity but also in men presenting a normal phenotype. Their azoospermia can be explained by partial or total deletion of AZF regions.
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