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Xu, H., Dai, M., Wang, K., Zhang, Y., Pan, F. and Shi, W. (2020) A Rare down Syndrome Foetus with De Novo 21q; 21q Rearrangements Causing False Negative Results in Non-Invasive Prenatal Testing: A Case Report. BMC Medical Genomics, 13, Article No. 96.
https://doi.org/10.1186/s12920-020-00751-8

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• 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.