ArticleJournal of assisted reproduction and genetics2025
High-resolution optical genome mapping unveils gene disruptions in a reciprocal chromosomal translocation and severe male infertility: a case report.
Article in Journal of assisted reproduction and genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies.JCEM case reports · 2026Article
- Detection of a complex chromosomal rearrangement in a novel mouse mutant by optical genome mapping.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
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10 authors.
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Abstract
purposeThis 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).
methodsOptical genome mapping (OGM) an advanced genomic tool with high-resolution structural variant detection capabilities was used to further characterize the translocation.
resultsOGM 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.
conclusionsThis 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.
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