TITLE:
Constitutional Chromosomal Translocations at the Cytogenetics Laboratory in Cotonou: A Report on 16 Cases
AUTHORS:
Simon Azonbakin, Marius Adjagba, Safiatou Diessongo, Etienne Goulai Bi, Yannick Goussanou, Arnaud Agbanlinsou, Essi D. N’Bouke, Anatole Laleye
KEYWORDS:
Robertsonian Translocations, Reciprocal Translocations, Various Phenotype, Benin
JOURNAL NAME:
Open Journal of Genetics,
Vol.15 No.2,
March
21,
2025
ABSTRACT: Chromosomal translocations are structural chromosomal abnormalities resulting from the exchange of genetic material between at least two chromosomes. They are associated with various phenotypes depending on the mechanisms of occurrence and the chromosomes involved. We conducted a retrospective study from May 2016 to April 2024 to assess the prevalence and characteristics of chromosomal translocations in the local population. Chromosomal translocations were identified in 1.74% of karyotypes. The phenotypes associated included facial dysmorphisms, recurrent miscarriages, and spermatogenesis disorders. This study highlights the need for early cytogenetic diagnosis to ensure optimal management of patients with these anomalies. However, further studies incorporating high-resolution molecular analyses are necessary to deepen our understanding of the underlying genetic mechanisms and the clinical implications of chromosomal translocations in the Beninese population.