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

  • Authors:
    • Ding Wang
    • Rui Chen
    • Shu Kong
    • Qian‑Ying Pan
    • Yu‑Hong Zheng
    • Wen‑Jun Qiu
    • Yong Fan
    • Xiao‑Fang Sun
  • View Affiliations

  • Published online on: June 21, 2017     https://doi.org/10.3892/mmr.2017.6835
  • Pages: 2051-2054
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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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August-2017
Volume 16 Issue 2

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Wang D, Chen R, Kong S, Pan QY, Zheng YH, Qiu WJ, Fan Y and Sun XF: Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation. Mol Med Rep 16: 2051-2054, 2017
APA
Wang, D., Chen, R., Kong, S., Pan, Q., Zheng, Y., Qiu, W. ... Sun, X. (2017). Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation. Molecular Medicine Reports, 16, 2051-2054. https://doi.org/10.3892/mmr.2017.6835
MLA
Wang, D., Chen, R., Kong, S., Pan, Q., Zheng, Y., Qiu, W., Fan, Y., Sun, X."Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation". Molecular Medicine Reports 16.2 (2017): 2051-2054.
Chicago
Wang, D., Chen, R., Kong, S., Pan, Q., Zheng, Y., Qiu, W., Fan, Y., Sun, X."Cytogenic and molecular studies of male infertility in cases of Y chromosome balanced reciprocal translocation". Molecular Medicine Reports 16, no. 2 (2017): 2051-2054. https://doi.org/10.3892/mmr.2017.6835