Mehmet Caner ÖZER, Ayşegül KARAHANOĞLU, Zerrin ÇELİK
Journal of Comprehensive Surgery - 2026;4(3):68-73
Chromosomal heteromorphisms (CHs) are structural chromosomal variants that are generally regarded as benign. This study will examine the potential impact of CHs on reproductive health, including infertility, recurrent pregnancy loss, spermatogenesis, oogenesis, and assisted reproductive techniques technologies. A narrative review of published studies evaluating the prevalence, biological mechanisms, and reproductive implications of CHs was conducted. Although CHs are traditionally regarded as normal cytogenetic variants, several studies have reported increased frequencies among individuals with infertility, recurrent pregnancy loss, and abnormal reproductive outcomes. Proposed mechanisms include alterations in meiotic chromosome pairing, chromatin condensation, gene regulation, and genome stability. However, findings remain inconsistent across studies. Current evidence suggests a possible association between CHs and adverse reproductive outcomes; however, a definitive causal relationship has not been established. Further prospective studies are required to clarify their clinical significance.
