Examination of Rates and Spectrums of Robertsonian Translocations in the General Population and in Patients with Reproductive Disorders

Abstract

Robertsonian translocations (rob) are essential in the etiology of congenital malformations and reproductive disorders. However, to date, there has been no systematic comparative analysis of both the frequency and spectrum of rob in different carrier populations. Also, due attention was not paid to the phenomenon of the exceptional rarity of some types of rob. In this paper, the spectrum of rob was determined in the reference group (newborn carriers from the general population and carriers diagnosed prenatally for indications other than family rearrangement) in comparison with groups of carriers with reproductive disorders (infertility and pregnancy loss). The overall rates of rob in the studied groups were calculated as 1.05, 3.3, and 5‰, respectively. It was suggested that homologous translocations do not cause disturbances in spermatogenesis. A rarity of some certain types of translocation could be explained by selection.