Paediatrics Specialization Sapienza

1 Introduction 22q11.2 deletion syndrome (22q11DS) is the most frequent chromosomal microdeletion syndrome, with a prevalence between 1 per 3000 to 1 per 6000 live births (McDonald-McGinn et al. 2015). The syndrome results from a ~ 1.5 to 3 Megabase hemizygous deletion (~ 46 protein-coding genes) in the locus 22q11.2. It is a multisystem disorder including physical, cognitive, and behavioral issues of variable severity (McDonald-McGinn 2020).