# Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service

## TL;DR

This study analyzed genetic causes of infertility in 151 Brazilian men using cytogenetic and genomic techniques over 14 years.

## Contribution

The study provides a detailed analysis of chromosomal and Y chromosome microdeletion/duplication findings in infertile men from a single public center.

## Key findings

- 13 out of 151 patients had chromosomal abnormalities, including 2 numerical and 11 structural.
- Genomic analysis identified microdeletions and duplications in specific Y chromosome regions in selected patients.
- PCR-STS and MLPA techniques revealed gene-specific deletions and duplications in the Y chromosome.

## Abstract

Male infertility accounts for approximately 30% of cases of reproductive failure. The characterization of genetic variants using cytogenomic techniques is essential for the adequate clinical management of these patients. We aimed to conduct a cytogenetic investigation of numerical and structural rearrangements and a genomic study of Y chromosome microdeletions/microduplications in infertile men derived from a single centre with over 14 years of experience.

We evaluated 151 infertile men in a transversal study using peripheral blood karyotypes and 15 patients with normal karyotypes through genomic investigation by multiplex ligation-dependent probe amplification (MLPA) or polymerase chain reaction of sequence-tagged sites (PCR-STS) techniques. Out of the 151 patients evaluated by karyotype, 13 presented chromosomal abnormalities: two had numerical alterations, and 11 had structural chromosomal rearrangements. PCR-STS detected a BPY2 gene region and RBMY2DP pseudogene region microdeletion in one patient. MLPA analysis allowed the identification of one patient with CDY2B_1 and CDY2B_2 probe duplications (CDY2B and NLGN4Y genes) and one patient with BPY2_1, BPY2_2, and BPY2_4 probe duplications (PRY and RBMY1J genes).