The 22q11.2 deletion syndrome: Genetic mechanisms, clinical manifestations, and therapeutic strategies.

The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder caused by the deletion of a specific region on the long arm of chromosome 22, characterized by remarkable clinical heterogeneity. This review provides a comprehensive overview of the genetic basis and molecular mechanisms underlying 22q11.2DS, highlighting its diverse clinical manifestations including neurodevelopmental disorders, immunodeficiency, and cardiovascular anomalies. Current diagnostic approaches, particularly the advances in gene detection technologies, are discussed alongside evolving individualized therapeutic strategies. Emphasis is placed on elucidating the pathophysiological pathways contributing to the syndrome's complex phenotype and on integrating recent research findings to enhance clinical management. By synthesizing the latest evidence, this article aims to support improved diagnosis, treatment, and guide future research directions in 22q11.2DS.