Molecular mechanisms of Down syndrome

Abstract

Down syndrome is a genetic condition characterized by the presence of an extra copy of chromosome 21. The embryology of Down syndrome has been the subject of intense research to understand how this chromosomal alteration affects embryonic and fetal development. During the early stages of gestation, alterations are observed in cell migration, proliferation, and tissue differentiation, which may influence the physical and neurological characteristics typical of the syndrome. The main objective of this article is to examine the embryological aspects of Down syndrome, focusing on the mechanisms of nondisjunction and their impact on embryonic development to provide a deeper understanding of how chromosomal abnormalities emerge and affect prenatal development. Through an exhaustive literature search using PubMed and Google Scholar, studies published in the last five years (2019-2024) were included to ensure the inclusion of up-to-date research. The findings of the selected studies were synthesized to provide a comprehensive overview of current knowledge on DS from an embryological perspective. Advances in genetics and molecular biology have made it possible to identify the mechanisms underlying these disorders. These findings offer new opportunities to improve prenatal diagnosis and early management of the condition, with a focus on early intervention.