Cytogenetic Study on Couples with a History of Reproductive Failure in North-east China

Objective Chromosome anomaly is an important risk factor for reproductive failure. This study is conducted to investigate the incidence of chromosome abnormalities in couples with reproductive failure in north-east China and to explore the relationship between chromosome abnormalities and reproductive failure.Methods A total of 2158 couples with reproductive failure were enrolled. Lymphocyte euhure and harvestwere performed according to standard methods. Karyotypes were analyzed by G-bending in all cases and C-ban-ding or R-banding in some eases if necessary. Results Altogether 137 abnormal karyotypes were found and the chromosomal abnormality rate was 3.17%. Among them 3 were numeral abnormalities, 134 were structural ab-errations including 90 cases of reciprocal translocations, 34 cases of Roertsonian translocations, 9 cases of in-versions and 1 case of deletion ; 43 kinds of which were identified as the first reported karyotypes in the world by the National Teaching Center of Medical Cytogenetics in Hunan, China. 378 chromosome heteromorphism were also detected and the rate was 8.76%. Conclusion Structural aberrations were the major abnormal karyotypes in couples with reproductive failure. Reciprocal and Robertsonian translocations occupied the largest proportions in structural aberrations, and a tendency that the rate of chromosome aberration increases with the times of mis-carriages was presented. In addition, heteromorphisms rate of chromosomes was high in such patients. Chromo-some analysis was an important and necessary part of the etiological research in couples with reproductive fail-ure. Key words: Chromosome abnormalities;  Chromosome structural aberration;  Chromosome hetero-morphism;  Reproductive failure