Introduction to 22q11.2 deletion syndrome

22q11.2 deletion syndrome (also referred to as velocardiofacial syndrome and DiGeorge syndrome) is one of the most common genetic causes of mild intellectual disability. It is caused by a contiguous deletion at chromosome location 22q11.2, with prevalence estimated to be 1 in 4000.

22q11.2 deletion syndrome usually presents in childhood with developmental delays, congenital heart disease and cleft palate, but in adulthood behavioural and psychiatric features are more prominent. Prognosis for people with 22q11.2 deletion syndrome is highly individual depending on manifestations of the condition; in the absence of congenital heart disease, lifespan should be similar to the general population.