불임증 427례에 대한 세포유전학적 분석: 단일 기관 연구

Abstract

Our study was performed to investigate the prevalence and diversity of chromosomal abnormalities in 427 patients with reproductive failure in our institution. Chromosomal aberrations were found in 5.2% of patients (6.8% in men and 3.1% in women). The most common aberration was sex chromosomal aneupolidy/mosaicism including 47,XXY in men and the reciprocal translocations in women. In 266 patients with repeated pregnany loss, the chromosomal aberration was found in 2.7% of patients (3.0% in men and 2.2% in women). The reciprocal translocation was the most common aberration in repeated preganancy loss. The normal variant chromosomal changes were found in 3.3% of all patients. The prevalence of chromosomal abnormalities found in our institution was similar with those of previous studies. However, the incidence of sex chromosomal mosaicism in female patients was relatively low, which might be due to small patient number, the difference of inclusion criteria or failure in detection of low-grade mosaicism.