FISH联合染色体核型分析明确复发性流产家系遗传病因-例.

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. [ABSTRACT FROM AUTHOR]