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.
Zhonghua Nan Ke Xue. 2024 Jul;30(7):627-633.
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).
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.
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.
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.
研究一名特殊复杂染色体重排（CCR）男性携带者的临床和遗传特征以及染色体结构重排植入前基因检测（PGT-SR）的结果。
采用改良的高分辨率G显带技术和全基因组低覆盖测序（WGLCS），分析一名CCR男性携带者的细胞染色体核型和分子核型，对单精子染色体拷贝数进行分析，并通过二代测序（NGS）对该患者进行PGT-SR。此外，我们回顾了关于已报道的CCR男性携带者的文献，并总结了他们正常/平衡精子比例和PGT-SR结果。
患者的核型为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)，易位断点位于基因间区域。单精子测序显示该男性精子中正常单倍体占20.0%（7/35），PGT-SR结果显示正常/平衡胚胎占25.0%（4/16）。解冻并移植2个整倍体囊胚后，成功分娩出一名健康男婴。
CCR男性携带者精子中正常单倍体的比例可能高于理论预测，PGT-SR可有效改善CCR男性携带者的妊娠结局，并为遗传咨询提供有价值的数据。
