Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome

Our study underscores the importance of CMA as a critical diagnostic tool for RSTS, particularly in cases where sequence analysis fails to identify pathogenic variants. The identification of significant deletions in the <i>CREBBP</i> and <i>EP300</i> genes through CMA not only confirms the diagnosis of RSTS but also expands our understanding of the genetic complexity of the syndrome. Since CMA is already included as part of the diagnostic evaluation for RSTS, these findings further emphasize its value in ensuring accurate diagnosis and improving the management of this rare condition.