This case report describes a 36-year-old male with primary infertility, associated with a balanced reciprocal translocation between chromosomes 1 and 7. The translocation was initially identified through constitutional karyotyping and further characterized using optical genome mapping (OGM).
Optical genome mapping (OGM) an advanced genomic tool with high-resolution structural variant detection capabilities was used to further characterize the translocation.
OGM pinpointed specific breakpoints within the ASB17 gene on chromosome 1 and the INHBA-AS1 gene on chromosome 7, with potential regulatory effects on MSH4 and GLI3, genes involved in meiotic recombination and reproductive development.
This report explores the potential roles of these genes in spermatogenesis, discusses chromatin decondensation and interchromosomal effects as additional infertility mechanisms, and underscores the clinical value of OGM in reproductive genetics.
Journal of assisted reproduction and genetics. 2025 Jun 04 [Epub ahead of print]
Debbie Montjean, Walaa Darwiche, Nellie Fotopoulos, Marie-Hélène Godin Pagé, Raouf Fetni, Francis Petrella, Marie-Claire Bélanger, Guillaume Jedraszak, Moncef Benkhalifa, Pierre Miron
Centres d'aide Médicale À La Procréation Fertilys, Laval and Brossard, Québec, Canada. ., Service de Cytogénétique Et de Génétique Constitutionnelle, Centre de Biologie Humaine, CHU Amiens Picardie, Amiens, France., Centres d'aide Médicale À La Procréation Fertilys, Laval and Brossard, Québec, Canada., Institut de Recherche en Immunologie Et Cancérologie (IRIC), Université de Montréal, Montréa, QC, Canada.