Probable role of chromosomal polymorphisms in reproductive failure. Findings in the Panamanian population
DOI:
https://doi.org/10.56294/saludcyt20251043Keywords:
Chromosomes, Chromosomal polymorphisms, heterochromatin, Infertility, Miscarriages, PanamaAbstract
Introduction: Chromosomal polymorphisms are variations in chromosomes in normal populations, generally affecting heterochromatic regions, which are poor in protein-coding genes. Several international studies associate the influence of chromosomal polymorphisms with pregnancy loss.
Objective: To analyze and characterize the frequency and types of chromosomal polymorphisms found in these patients, as well as to explore possible correlations between these variations and the different reproductive disorders observed.
Methods: Patients with reproductive disorders who had a polymorphic variant of chromosomes 1, 9, 16, or Y and acrocentric chromosomes 13, 14, 15, 21, or 22 were selected. They were analyzed in different groups: recurrent pregnancy loss (I) and infertility (II).
Results: Of 549 patients with reproductive disorders, chromosomal polymorphisms were detected in 61 (11%). The most frequent polymorphisms were 1qh-, 9qh+, 21pstk+, inv 9, and 16qh+. The group with recurrent miscarriages presented 45.4% of the most frequently found polymorphisms. Cases of infertility alone accounted for only 24.2%. In both groups analyzed, female patients predominated over males.
Conclusions: The percentage of chromosomal polymorphisms found in the study sample is consistent with international reports on this topic. An unusual chromosomal polymorphism of chromosome 1 was found with relative frequency, which could constitute an inherent characteristic of the population studied. Chromosomal polymorphisms of chromosome 9 are the most recurrent finding involved in reproductive disorders.
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Copyright (c) 2025 Luis A. Sotillo-Bent, Johan Varela, Génesis Villarreal, José A. Cedeño-Escudero, Michelle Facey, Estela Morales- Peralta, Luis A. Méndez-Rosado (Author)
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