Chromosomal Aberrations and Male Infertility
Summary
Chromosomal aberrations constitute a significant cause of male infertility, accounting for up to 15 per cent of cases with severe spermatogenic failure. Structural rearrangements such as translocations and inversions can disrupt gene dosage or impair meiosis, resulting in reduced sperm count, poor motility and increased rates of miscarriage or unbalanced offspring. Numerical anomalies, notably aneuploidies involving sex chromosomes or autosomes, may arise during spermatogenesis and contribute to fertilisation failures or early embryonic loss. Advances in cytogenetic and molecular methods have refined the detection of both balanced and unbalanced rearrangements, enabling tailored genetic counselling and assisted reproduction strategies. By elucidating the spectrum and mechanisms of chromosomal defects—from Robertsonian and reciprocal translocations to pericentric inversions—clinicians can better advise on preimplantation genetic diagnosis, intracytoplasmic sperm injection and risk assessment for partners and offspring.
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Chromosomal Aberrations and Male Infertility publication trend
The graph below shows the total number of articles in chromosomal aberrations and male infertility across all publications each year (not limited to Nature Index journals).
Technical terms
Aneuploidy: Presence of an abnormal number of chromosomes in a cell, often resulting in developmental arrest or miscarriage.
Robertsonian translocation: Fusion of two acrocentric chromosomes at their centromeres, frequently balanced in carriers but predisposing to unbalanced gametes.
Balanced translocation: Chromosomal rearrangement in which there is no net loss or gain of genetic material, potentially disrupting gene function at breakpoints.
Fluorescence in situ hybridisation (FISH): Cytogenetic technique that uses fluorescent probes to detect and localise specific DNA sequences on chromosomes.
References
- Sperm and Oocyte Chromosomal Abnormalities. Biomolecules (2023).
- Robertsonian Translocations: An Overview of 872 Robertsonian Translocations Identified in a Diagnostic Laboratory in China. PLOS ONE (2015).
- Non-Robertsonian translocations involving chromosomes 13, 14, or 15 in male infertility. Medicine (2019).
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