Table1_Case Report: Balanced Reciprocal Translocation t (17; 22) (p11.2; q11.2) and 10q23.31 Microduplication in an Infertile Male Patient Suffering From Teratozoospermia.DOCX

Two chromosomal abnormalities are described in an infertile man suffering from teratozoospermia: balanced reciprocal translocation t (17; 22) (p11.2; q11.2) and a microduplication in the region 10q23.31. Twenty genes located on the breakpoints of translocation (e.g., ALKBH5, TOP3A, SPECC1L, and CDC45) are selected due to their high expression in testicular tissues and might be influenced by chromosome translocation. Four genes located on the breakpoints of microduplication including FLJ37201, KIF20B, LINC00865, and PANK1 result in an increased dosage of genes, representing an imbalance in the genome. These genes have been reported to be associated with developmental disorders/retardation and might be risk factors affecting spermatogenesis. Bioinformatics analysis is carried out on these key genes, intending to find the pathogenic process of reproduction in the context of the translocation and microduplication encountered in the male patient. The combination of the two chromosomal abnormalities carries additional risks for gametogenesis and genomic instability and is apparently harmful to male fertility. Overall, our findings could contribute to the knowledge of male infertility caused by genetic factors.

在一名患有精细胞形态异常的不育男性中，描述了两种染色体异常：平衡性互换易位t(17;22)(p11.2;q11.2)以及10q23.31区域内的微重复。鉴于这些基因在睾丸组织中的高表达，并可能受染色体易位影响，从易位断点处选出了20个基因（例如，ALKBH5、TOP3A、SPECC1L和CDC45）。位于微重复断点上的4个基因（包括FLJ37201、KIF20B、LINC00865和PANK1）导致基因剂量增加，象征着基因组的不平衡。这些基因已被报道与发育障碍/迟缓相关，可能是影响生精作用的潜在风险因素。对这组关键基因进行生物信息学分析，旨在探究男性患者遭遇的易位与微重复背景下的生殖致病过程。两种染色体异常的结合为配子发生和基因组稳定性带来了额外的风险，显然对男性生育能力有害。总体而言，我们的发现有助于丰富由遗传因素引起的男性不育的知识体系。