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Small Supernumerary Marker Chromosome (sSMC) 15 in Male Primary Infertility: A Case Study
Filomena Mottola1, Renata Finelli2, Veronica Feola1
1Department of Environmental, Biological and Pharmaceutical Sciences and Technologies, University of Campania "Luigi Vanvitelli", Caserta 81100, Italy.
Case Reports in Medicine
|May 2, 2025
Summary
A small supernumerary marker chromosome 15 (sSMC(15)) was found in a male patient with primary infertility. This genetic anomaly may disrupt sperm production, contributing to oligoasthenozoospermia.
Area of Science:
- Human Genetics
- Reproductive Medicine
- Cytogenetics
Background:
- Primary infertility affects couples seeking assisted reproductive techniques.
- Semen analysis is crucial for evaluating male fertility.
- Genetic factors can significantly impact male reproductive health.
Observation:
- A phenotypically normal male patient presented with primary infertility.
- Semen analysis revealed oligoasthenozoospermia, elevated sperm DNA fragmentation, and aneuploidies.
- Karyotype analysis identified a small supernumerary marker chromosome 15 (sSMC(15)), specifically an inverted duplication (inv dup(15)) of the 15q11.2 region, excluding the Prader-Willi/Angelman syndrome critical region (PWACR).
Findings:
- Genetic analysis excluded Y chromosome and CFTR gene mutations.
- The patient's spermatozoa showed a high prevalence (35%) of carrying the sSMC(15).
- The presence of inv dup(15) sSMC, without PWACR involvement, is potentially associated with male infertility.
Implications:
- sSMC(15) may interfere with normal spermatogenesis, leading to oligoasthenozoospermia.
- This case highlights a potential novel genetic cause of male infertility.
- Further research is warranted to elucidate the mechanisms linking the 15q11.2 region and male infertility.
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