Del(22q11.2) Syndrome

Abstract

The 22q11.2 deletion syndrome is one of the most common multiple anomaly syndrome and the most common microdeletion syndrome. It is the most common syndrome associated with palatal clefts and congenital velopharyngeal dysfunction (Kirschner 2005) and the second most common cause of developmental delay accounting for about 2.4% of affected individuals. The occurrence is approximately 1 in 4,000 live births (Botto et al. 2003; Óskarsdóttir et al. 2005).