ArticleJournal of assisted reproduction and genetics2012
Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions.
Article in Journal of assisted reproduction and genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed.
- A mosaic karyotype of 45,X/46,X,psu idic(Y)(q12) in a ten-year-old boy: integrating high-throughput sequencing with cytogenetic technique for precise diagnosis and genetic counselling.BMC pediatrics · 2023Article
- Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.Journal of assisted reproduction and genetics · 2022Article
- Cytogenetic and molecular detection of a rare unbalanced Y;3 translocation in an infertile male: A case report.Medicine · 2020Article
- Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review.BioMed research international · 2019Review
- A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development.Clinical case reports · 2018Article
- Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.American journal of medical genetics. Part A · 2016Article
- The use of genomics, proteomics, and metabolomics in identifying biomarkers of male infertility.Fertility and sterility · 2013Review
- Specialized sperm function tests in varicocele and the future of andrology laboratory.Asian journal of andrologyReview
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The isodicentric Y (idic Y) chromosome is one of the most common aberrations of the human Y chromosome. Due to a structural instability during cell division, patients with idic Y may develop mosaic karyotypes with variable phenotypes. We present a rare case of a 25-year-old male with azoospermia and infertility. In this patient, an idic Yq was characterized by duplication of almost the entire Y chromosome in head-to-head fashion with breakpoints occurring at the distal Yp / Yp11.3 with sparing of both the AZF and SRY regions. We discuss the possible mechanisms of azoospermia in this patient and add to the limited evidence that exists regarding the importance of pseudoautosomal regions and meiotic sex chromosome pairing as part of normal spermatogenesis.
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