Cytogenetic findings in 311 couples with infertility and reproductive disorders

Abstract

Chromosome studies in married couples were performed in order to elucidate their infertility, spontaneous abortions and foetal wastage. Peripheral blood lymphocyte metaphases of 311 persons revealed chromosomal abnormalities in 26 married people. Chromosome aberrations found here were distributed among sex chromosome aneuploidy (complete and mosaic form), structural anomalies of the Y chromosome, autosomal chromosome aneuploidy (mosaic form), and balanced autosomal translocations (complete and mosaic forms). Chromosomal structural variants were observed in chromosome A-1 (1qh +) in one person and in acrocentric chromosomes in 21 persons. They consisted mainly in elongated secondary constriction (NOR) and in large or very large satellites. The acrocentric association frequencies per metaphase were strongly increased in a group of probands carrying acrocentric variants. Their significance awaits further study.