Molecular markers

Molecular cytogenetic analysis of a ring-Y infertile male patient

F. M. Carvalho, Wolfgramm, E. V., Degasperi, I., Verbeno, B. M., Vianna, B. A., Chagas, F. F., Paula, F., Louro, I. D., and Perroni, A. M. S., Molecular cytogenetic analysis of a ring-Y infertile male patient, vol. 6. pp. 59-66, 2007.

In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc).

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