Cytogenetic Study for 427 Patients with Reproductive Failure: Single Center Study

Keimyung Medical Journal 2010;29(1):29-34.

불임증 427례에 대한 세포유전학적 분석: 단일 기관 연구

김도훈; 하정숙

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.

Key Words: Chromosomal abnormality, cytogenetic study, infertility, repeated pregnancy loss