An overview of the trajectory of Brazilian individuals with 22q11.2 deletion syndrome until diagnosis.
Isabela Mayá Wayhs SilvaVera Lúcia Gil-da-Silva-LopesPublished in: Orphanet journal of rare diseases (2022)
In Brazil, 22q11.2 DS is under-recognized, and early diagnosis and management of affected individuals are still a distant reality. In this sense, 22q11.2 DS suspicion followed by the elimination of obstacles for its diagnosis confirmation is essential to increase life expectancy and improve the quality of life of these individuals in Brazil.
Keyphrases