特殊复杂染色体重排1例男性携带者的遗传学分析与PGT-SR助孕结局  

Genetic analysis and PGT-SR outcome of a male carrier of exceptional complex chromosome rearrangement

作　　者：刘顿 董云巧[1] 陈创奇[1] 于行素 燕瑾 刘风华[1] 张曦倩[1] LIU Dun;DONG Yun-qiao;CHEN chuang-qi;YU Xing-su;YAN Jin;LIU Feng-hua;ZHANG Xi-qian(Center of Reproductive Medicine,Guangdong Women and Children's Hospital,Guangzhou,Guangdong 510000,China)

机构地区：[1]广东省妇幼保健院生殖医学中心,广东广州510000

出　　处：《中华男科学杂志》2024年第7期627-633,共7页National Journal of Andrology

基　　金：广州市科技计划项目(202102021170)。

摘　　要：目的:探讨1例特殊染色体复杂重排(CCR)男性携带者的临床特征、遗传学特征与胚胎植入前染色体结构重排筛查(PGT-SR)的助孕结局。方法:通过改良高分辨G显带技术和低深度高通量全基因组测序技术(WGLCS)分别对该男性患者的细胞染色体核型和分子核型进行分析。此外,利用二代测序技术(NGS)对该男性患者进行单精子染色体拷贝数(CNV)分析和PGT-SR助孕。结果:该男性患者核型为:46,XY,der(5)inv(5)(q14.3q23.2)t(5;14;11)(q23.2;q31.1;q21),der(11)t(5;14;11);der(14)t(5;14;11),其易位断点位于基因间区。单精子测序结果显示该男性精子中20.0%(7/35)为正常单倍体。PGT-SR结果显示正常/平衡的胚胎比率为25.0%(4/16),经过2次冷冻的单囊胚移植后,夫妇成功活产一健康男婴。此外,对已报道的男性CCRs携带者进行了文献回顾,总结了其正常/平衡精子比率和PGT-SR结局。结论:本研究提示男性CCRs携带者的正常单倍体精子比率可能高于理论预测,通过PGT-SR可有效改善其妊娠结局,在遗传咨询方面为他们提供了有价值的数据。Objective:To investigate the clinical and genetic characteristics of a male carrier of exceptional complex chromosome rearrangement(CCR)and the outcome of preimplantation genetic testing for chromosomal structural rearrangement(PGT-SR).Methods:Using the modified high resolution G banding technique and whole-genome low-coverage sequencing(WGLCS),we analyzed the cellular karyotype and molecular karyotype of a male carrier of CCR,performed an analysis of the single-sperm chromosome copy number and conducted PGT-SR for the patient by next-generation sequencing(NGS).In addition,we reviewed the literature on reported male carriers of CCRs and summarized their normal/balanced sperm ratios and PGT-SR outcomes.Results:The karyotype of the patient was 46,XY,der(5)inv(5)(q14.3q23.2)t(5;14;11)(q23.2;q31.1;q21),der(11)t(5;14;11);der(14)t(5;14;11),with the translocation breakpoints located in the intergenic region.Single-sperm sequencing revealed 20.0%(7/35)of normal haploids in the male's spermatozoa,and the results PGT-SR showed a proportion of 25.0%(4/16)of normal/balanced embryos.After thawing and transferring of 2 euploid blastocysts,a healthy male infant was successfully delivered.Conclusion:The proportion of normal haploids in the spermatozoa of male CCR carriers may be higher than theoretically predicted,and PGT-SR can effectively improve the pregnancy outcome in male CCR carriers and provide valuable data for genetic counseling.

关 键 词：复杂染色体重排 胚胎植入前遗传学检测 单精子染色体拷贝数 遗传咨询 

分 类 号：R446.19[医药卫生—诊断学]