ArticleBiomolecules2023
Polymorphic Rearrangements of Human Chromosome 9 and Male Infertility: New Evidence and Impact on Spermatogenesis.
Article in Biomolecules, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 18 citations in OpenAlex.
- An atypical variant of congenital bronchoesophageal fistula associated with esophageal atresia and right main bronchial atresia and right lung hypoplasia in a preterm neonate: a case report.Journal of medical case reports · 2026Article
- Pericentric inversion in chromosome 2 and their fertility issues: three cases report and literature review.Open medicine (Warsaw, Poland) · 2026Article
- Frequency and Distribution of Incidental Chromosomal Abnormalities Detected by Peripheral Blood Karyotyping: A Retrospective Study.Genetics research · 2026Article
- Effect of pericentric inversion of chromosome 9 on reproductive outcomes in assisted reproductive technology: a propensity score-matched cohort study.Frontiers in endocrinology · 2026Article
- Chromosomal Roadblocks in Male Fertility: Mechanisms, Risk Factors and Syndromes.Medicina (Kaunas, Lithuania) · 2025Review
- Chromosome defects and male factor infertility.Fertility and sterility · 2025Review
- The selection of Y chromosome microdeletion detection methods based on seminal analysis results: a comparison of high-throughput sequencing and fluorescence quantitative polymerase chain reaction (qPCR) applications.Translational andrology and urology · 2025Article
- Fertility problems in men carrying chromosome 7 inversion: A retrospective, observational study.Medicine · 2025Observational
- Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China.The application of clinical genetics · 2025Article
- Survey of Structural Autosomal Abnormalities and Autosomal Variants in Infertile Patients Treated at Some IVF Centers in Vietnam.The application of clinical genetics · 2025Article
- The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.Medicina (Kaunas, Lithuania) · 2024Article
- Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.Human genome variation · 2024Review
- Exploring the link between chromosomal polymorphisms and reproductive abnormalities.Reproductive health · 2024Article
- The Relationship Between Chromosomal Polymorphism and Male Reproductive Abnormalities.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Environmental and Genetic Traffic in the Journey from Sperm to Offspring.Biomolecules · 2023Review
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chromosomal polymorphisms are structural variations in chromosomes that define the genomic variance of a species. These alterations are recurrent in the general population, and some of them appear to be more recurrent in the infertile population. Human chromosome 9 is highly heteromorphic, and how its rearrangement affects male fertility remains to be fully investigated. In this study, we aimed to investigate the association between the polymorphic rearrangements of chromosome 9 and male infertility via an Italian cohort of male infertile patients. Cytogenetic analysis was carried out, along with Y microdeletion screening, semen analysis, fluorescence in situ hybridization, and TUNEL assays using spermatic cells. Chromosome 9 rearrangements were observed in six patients: three of them showed a pericentric inversion, while the others showed a polymorphic heterochromatin variant 9qh. Of these, four patients exhibited oligozoospermia associated with teratozoospermia, along with a percentage of aneuploidy in the sperm of above 9%, in particular, an increase in XY disomy. Additionally, high values for sperm DNA fragmentation (≥30%) were observed in two patients. None of them had microdeletions to the AZF loci on chromosome Y. Our results suggest that polymorphic rearrangements of chromosome 9 might be associated with abnormalities in sperm quality due to incorrect spermatogenesis regulation.
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