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

作　　者：庄建龙 江矞颖 曾书红 陈新英 ZHUANG Jian-long;JIANG Yu-ying;ZENG Shu-hong;CHEN Xin-ying(Prenatal Diagnosis Center,QuanZhou Women′s and Children′s Hospital,Quanzhou 362000,Fujian Province,China)

机构地区：[1]福建省泉州市妇幼保健院·儿童医院产前诊断中心,362000

出　　处：《国际生殖健康/计划生育杂志》2024年第3期201-203,211,共4页Journal of International Reproductive Health/Family Planning

基　　金：福建省卫生健康科技计划项目(2020QNB045);泉州市科技计划项目(2023NS068)

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。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 

分 类 号：R714.21[医药卫生—妇产科学]