Fan Haitao, Liu Zhe, Zhan Peng, Jia Guoliang
Department of Urology, The Second Hospital of Jilin University, Changchun, Jilin Province 130041, China.
Open Med (Wars). 2022 Jan 19;17(1):191-196. doi: 10.1515/med-2022-0411. eCollection 2022.
As a significant chromosomal structural abnormality, chromosomal inversion is closely related to male infertility. For inversion carriers, the interchromosomal effect explains male infertility, but its specific mechanism remains unclear. Additionally, inversion carriers with different chromosomes have different clinical manifestations. Therefore, genetic counseling is difficult in clinical practice. Herein, four male carriers of pericentric inversion in chromosome 6 have been described. Two patients showed asthenospermia, one showed azoospermia, and the wife of the remaining patient had recurrent miscarriages. Through a literature search, the association between the breakpoint of pericentric inversion in chromosome 6 and male fertility problems are also discussed in this study. Overall, important genes related to asthenospermia in chromosome 6p21 were found, which may be related to the clinical phenotype. These results suggest that physicians should focus on the breakpoints of inversion in genetic counseling.
作为一种重要的染色体结构异常，染色体倒位与男性不育密切相关。对于倒位携带者，染色体间效应解释了男性不育的原因，但其具体机制仍不清楚。此外，不同染色体的倒位携带者有不同的临床表现。因此，临床实践中的遗传咨询很困难。在此，描述了4例6号染色体臂间倒位的男性携带者。2例患者表现为弱精子症，1例表现为无精子症，其余患者的妻子有反复流产史。通过文献检索，本研究还讨论了6号染色体臂间倒位的断点与男性生育问题之间的关联。总体而言，在6号染色体p21区域发现了与弱精子症相关的重要基因，这可能与临床表型有关。这些结果表明，医生在遗传咨询中应关注倒位的断点。
