Evaluating chromosomal segregation in a family where both spouses carry an autosomal translocation

Abstract

Autosomal reciprocal translocations represent exchanges of chromatin fragments between non-homologous chromosomes. Translocations are facilitated by the creation of quadrivalent structures during the first meiotic division, which are characterized by the length of the translocated and centric segments, asymmetry, and the presence of terminal breakpoints, all of which may impact segregation mode. Here, we report a rare case of multiple reciprocal translocations within a single family. This includes the evaluation of the translocations in each of the spouses and an analysis of their chromosome segregation patterns as determined by the constellation of universal characteristics in each of their quadrivalents. The obtained results will be of interest to fundamental biology, as they will expand the understanding of the factors affecting chromosome segregation during meiosis.