An evaluation of the Y chromosome microdeletions and spermatogenesis defects in patients with Y-autosomal translocations

Y-autosome translocations are rare structural chromosomal abnormalities that have a different effect on the reproductive system, gametogenesis and human fertility. The article presents the results of genetic and semen examination of a group of 14 men with Y-autosomal translocations. Cytogenetic, molecular cytogenetic, molecular cytogenetic (FISH), molecular genetic and complex semen studies, including standard semen analysis and quantitative karyological analysis of immature germ cells (QKA of IGCs) from the ejaculate sediment, were performed. Non-mosaic (10 balanced and 4 unbalanced) translocations involving the Y chromosome and one of the autosomes (chromosomes 1, 5, 8, 13-16, 20-22) were detected. The patients were phenotypically normal men, without disorders of sex development, congenital malformations, growth and physical development disorders, mental retardation. Molecular analysis of the Y chromosome performed in 13 patients has detected the SRY locus in all patients; pathogenic Yq11 microdeletions (AZFa+b+c, AZFb+c) were found in two patients. Semen analysis shown various diagnosis, including azoospermia (n=11), severe oligozoospermia (n=1), oligoastenozoospermia (n=1), and normozoospermia (n=1). Signs of a complete or partial фдarrest at prophase I of meiosis were detected in 3 out of 7 patients who underwent QKA of IGCs.

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