Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions

This study assessed the diagnostic value of chromosomal microarray analysis in 419 patients with dysmorphic features and congenital anomalies, finding 61 copy number variations (CNVs) in 50 patients (12%). It highlighted two patients with 2q33 deletions: one with a 469 kbp deletion affecting SATB2, causing speech delay and seizures, and another with a 7.5 Mb deletion including CTLA4, leading to immune deficiency and ectodermal features like alopecia. The study concluded that CTLA4 deletion alone may cause immune deficiency, underscoring the importance of chromosomal microarray analysis in diagnosing rare CNVs and aiding personalized treatment and genetic counseling.