Abstract

Sperm aneuploidy and implications for genetic counseling in a pedigree of three t(1;3) balanced translocation carriers

A reciprocal translocation between the short arm of chromosome 1 and the long arm of chromosome 3 was observed in a pedigree of three carriers (proband, and his brother and mother). In this study, the three carriers had different clinical manifestations: the proband with infertility, his brother with spousal miscarriages, and his mother with no adverse reproductive history. Cytogenetic analysis of metaphase chromosomes was performed, and triple-color fluorescence in situ hybridization was applied to the detection of aneuploidy sperm related to the interchromosomal effect (ICE). An increase of aneuploidy of chromosome 21 in the proband and aneuploidy of chromosomes 13, 21, and Y in the brother were observed. Since patients with reciprocal translocations and spermatogenetic impairment are candidates, with their partners, for intracytoplasmic sperm injection, the study of the level of sperm aneuploidy rates would provide useful information for couples at risk, as well as contributing to a better understanding of the ICE.

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