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

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

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 rea...

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Published in:BMC research notes Vol. 17; no. 1; p. 67
Main Authors: Adriano, Márcia Regina Gimenes, Bortolai, Adriana, Madia, Fabricia Andreia Rosa, da Silva Carvalho, Gleyson Francisco, Nascimento, Amom Mendes, Zanardo, Evelin Aline, Wolff, Beatriz Martins, Waisberg, Jaques, Bos-Mikich, Adriana, Kulikowski, Leslie Domenici, Dias, Alexandre Torchio
Format: Journal Article
Language:English
Published: England BioMed Central Ltd 05-03-2024
BioMed Central
BMC
Subjects:
Brazil
Care and treatment
Chromosome aberrations
Chromosome rearrangements
Cytogenetics
Diagnosis
Fertility
Genes
Genetic counseling
Genetic diversity
Genetic Services
Genetic testing
Genomic analysis
Genomics
Health aspects
Humans
Infertility
Infertility, Male - genetics
Karyotypes
Karyotyping
Laboratories
Male
Male infertility, Y chromosome, Cytogenetics, Karyotype, Multiplex polymerase chain reaction, Duplicate genes, Recurrent abortion
Men
Miscarriage
Motility
Multiplex Polymerase Chain Reaction
Patients
Peripheral blood
Polymerase chain reaction
Reproductive failure
Research Note
Sperm
Spermatogenesis
Y chromosomes
Brazil
Male infertility, Y chromosome, Cytogenetics, Karyotype, Multiplex polymerase chain reaction, Duplicate genes, Recurrent abortion
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Summary: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).
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ISSN:1756-0500
1756-0500
DOI:10.1186/s13104-024-06710-1