FISH联合染色体核型分析明确复发性流产家系遗传病因一例
Genetic Analysis of A Family with Recurrent Spontaneous Abortion Using FISH Combined with Chromosome Karyotype
庄建龙 1江矞颖 1曾书红 1陈新英1
作者信息
- 1. 362000 福建省泉州市妇幼保健院·儿童医院产前诊断中心
- 折叠
摘要
自然流产病因复杂,包括胚胎因素、母体因素、环境因素和免疫功能异常等,约50％～60％的流产与胚胎染色体异常有关.报告1例因2次自然流产行夫妇外周血染色体核型分析和荧光原位杂交(fluorescence in situ hybridization,FISH)检测的情况.妻子染色体核型未见明显异常,丈夫染色体核型46,XY,t(1;11)(p36.2;q24).丈夫携带的t(1;11)平衡易位可能是导致该家庭反复流产的原因.该案例验证了FISH检测对于可疑亚端粒结构重排的应用价值.
Abstract
The etiology of spontaneous abortion is complex,including embryonic factors,maternal factors,environmental factors and abnormal immune function.Approximately 50％～60％abortions are related to fetal chromosomal abnormalities.We reported a case of twice spontaneous abortion.The couple were subject to both chromosome karyotype and fluorescence in situ hybridization(FISH)analysis.None of obvious abnormality was observed in the wife,while chromosome karyotype result showed 46,XY,t(1;11)(p36.2;q24)in the husband.The balanced translocation of t(1;11)carried by the husband may be the reason for recurrent spontaneous abortion in this family.The case indicated the application value of FISH technology in the verification of suspect subtelomeric rearrangements.
关键词
流产,习惯性/核型分析/原位杂交,荧光/分子诊断技术/易位,遗传Key words
Abortion,habitual/Karyotyping/In situ hybridization,fluorescence/Molecular diagnostic techniques/Translocation,genetic引用本文复制引用
基金项目
福建省卫生健康科技计划(2020QNB045)
泉州市科技计划(2023NS068)
出版年
2024
国家科技期刊平台
NSTL
万方数据