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

Mol Med Rep. 2017 Aug;16(2):2051-2054. doi: 10.3892/mmr.2017.6835. Epub 2017 Jun 21.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chromosomes, Human, Y / genetics*
  • Cytogenetic Analysis*
  • Genetic Association Studies
  • Humans
  • Infertility, Male / genetics*
  • Male
  • Metaphase
  • Polymorphism, Single Nucleotide / genetics
  • Translocation, Genetic*