What is 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome is a genetic syndrome.  It is the result of a submicroscopic deletion on the long arm of Chromosome 22 in the “q11” region - deletion 22q11. 

22q11.2 Deletion Syndrome is also known as VCFS, DiGeorge (DGS), Shprintzen Syndrome, CATCH 22, Conotruncal anomaly face syndrome and Cayler cardiofacial syndrome.

  • 22q11.2 DS affects approx. 1 in 1000 - 2000 persons
     

  • 22q11.2 DS is the most common genetic syndrome associated with cleft palates and  approx. 65% of patients will have a cleft or palate abnormality​
     

  • Approx. 75% of patients with 22q11.2 DS will have a congenital heart defect. Click here for more information
     

  • Research suggests that 90% of people with 22q11.2 DS will have a learning differences or impairments (for more information visit our education page)

  • Most people with 22q11.2DS will have some form of anxiety, stress or depression, however this can be managed. Research suggests that 25% of patients may develop a serious mental illness. 
     

  • 22q11.2 DS has more than 180 anomalies associated with it. A list of multisystem features can be found here

For information on the duplication please refer to the International 22q11 Foundation