Description of clinical signs of Brazilian patients with the 22q11.2 Deletion Syndrome and comparison with different populations

Abstract

22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion among humans. This syndrome presents several clinical manifestations and symptoms, which hampers its clinical diagnosis. In addition to a wide range of signs/symptoms, recent studies have indicated that the clinical presentation has been observed variable among different population groups. This study aimed to describe the main clinical signs of patients with 22q11.2 DS registered in the Brazilian Database on Craniofacial Anomalies/22q11.2 Deletion Syndrome (BDCA/SDEL22q) and compare the frequency of clinical signs of these with patient groups with the same condition from different populations.