[HTML][HTML] Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation

D Wang, R Chen, S Kong, QY Pan… - Molecular …, 2017 - spandidos-publications.com
D Wang, R Chen, S Kong, QY Pan, YH Zheng, WJ Qiu, Y Fan, XF Sun
Molecular medicine reports, 2017spandidos-publications.com
Y-autosomal translocation has been previously reported in association with male infertility;
however, the mechanisms of Y-autosomal translocation and non‑obstructive azoospermia or
severe oligospermia remain unclear. G‑banding and fluorescence in situ hybridization
(FISH) were performed to analyze the translocation of chromosomes, and a single
nucleotide polymorphism (SNP) genotyping assay was used to test mutations. The present
study describes three new cases with a de novo balanced translocation t (Y; 13), t (Y; 9) and …
Abstract
Y-autosomal translocation has been previously reported in association with male infertility; however, the mechanisms of Y-autosomal translocation and non‑obstructive azoospermia or severe oligospermia remain unclear. G‑banding and fluorescence in situ hybridization (FISH) were performed to analyze the translocation of chromosomes, and a single nucleotide polymorphism (SNP) genotyping assay was used to test mutations. The present study describes three new cases with a de novo balanced translocation t (Y; 13), t (Y; 9) and t (Y; 6). To further explore the genotype‑phenotype correlation, G‑banding and FISH were performed and indicated the presence of a derivative chromosome. The SNP genotyping assay using a microarray revealed no abnormality, especially in the Y chromosome. Molecular deletion analysis demonstrated that no microdeletion was detected in the azoospermia factor region of the Y chromosome in the examined, infertile men. Based on these observations, the authors proposed the hypothesis that a position effect involving unknown spermatogenesis regulatory gene (s) serves a key role in male infertility.
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