Structural chromosomal aberrations in parents with spontaneous abortion

Abstract

In the Laboratory for Human Cytogenetics of the University Hospital Department of Gynecology and Obstetrics in Beograd a cytogenetic analysis of 30 families with spontaneous abortion was performed. In two families structural chromosome aberrations - Y chromosome deletion and 13/14 translocation - were detected. Phenotypic normal male members of one family revealed the same type of deletion of the larger part of the distal region of the long Y chromosome arm (46, X, del (Y) (q12)). In the other family, in a phenotypically normal parent, a balanced translocation (45, XY, t(13/14)) was observed. The authors discuss the correlation between structural aberrations, Yq deletion and 13/14 translocation on the one hand and spontaneous abortion on the other.