Chromosome abnormalities and Yq microdeletions in infertile italian couples referred for assisted reproductive...

This study analyses the prevalence of karyotype aberrations and Yq microdeletions in infertile couples undergoing intracytoplasmic sperm injection (ICSI). Before undergoing ICSI, each partner of 470 infertile couples was screened for karyotype aberrations by QFQ-banding technique on peripheral blood lymphocytes; male partners were also screened for Yq microdeletions. In 2.55% of the couples karyotype aberrations were found including numerical and structural alterations of autosomes and sex chromosomes. The female group had a high prevalence of low-level sex chromosome mosaicism (1.28%) and 5 cases of structural autosomal abnormalities (1.06%). The male group had 7 structural abnormalities of the autosomes (1.49%), 2 supernumerary marker chromosomes (0.42%), one case of low level gonosomal mosaicism (0.21%), and 2 cases of Y chromosome inversion (0.42%). Eight cases of Yq microdeletions (1.70%) were also found. Screening for genetic factors, chromosomal abnormalities and Yq microdeletions is indicated for couples undergoing assisted reproductive techniques due to the higher prevalence of these factors in infertile couples compared to the population as a whole although different chromosome aberrations have been reported elsewhere.