国际生殖健康/计划生育杂志2024，Vol.43Issue(3)：201-203,211,4.DOI:10.12280/gjszjk.20230409
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
摘要
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
庄建龙,江矞颖,曾书红,陈新英..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[J].国际生殖健康/计划生育杂志,2024,43(3):201-203,211,4.基金项目
福建省卫生健康科技计划项目(2020QNB045) （2020QNB045）
泉州市科技计划项目(2023NS068) （2023NS068）
