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。
Genetic Analysis of A Family with Recurrent Spontaneous Abortion Using FISH Combined with Chromosome Karyotype
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.
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