Tan Xuemei, Liu Bailing, Yan Tizhen, Wei Xiaobao, Qin Yanfeng, Zeng Dingyuan, Yuan Dejian
Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China.
Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, China.
Mol Cytogenet. 2023 Aug 23;16(1):20. doi: 10.1186/s13039-023-00647-z.
Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for chromosome 2 (UPD2) encountered during prenatal diagnosis. The ultrasound findings of the fetuses from two unrelated families showed intrauterine growth restriction. The karyotype analyses were normal. The two fetuses both had complete paternal chromosome 2 uniparental disomy detected by whole-exome sequencing, but their clinical outcomes were significantly different, with fetal arrest in case 1 and birth in case 2. In this report, we analyzed and discussed the phenotypes of the fetuses in these two cases and reviewed the literature on UPD2.
单亲二体性（UPD）是指同源染色体的全部或部分仅从双亲中的一方遗传而来。目前，几乎所有染色体都有UPD发生的报道。在本研究中，我们报告了产前诊断过程中遇到的2例2号染色体单亲二体性（UPD2）病例。来自两个无关家庭的胎儿超声检查结果显示宫内生长受限。核型分析正常。通过全外显子测序检测发现，这两个胎儿均存在完全的父源2号染色体单亲二体性，但它们的临床结局显著不同，病例1发生胎停，病例2出生。在本报告中，我们分析并讨论了这两例胎儿的表型，并对UPD2的相关文献进行了综述。
