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.

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• 22q11.2 DS affects approx. 1 in 1000 - 2000 persons making it the second most prevalent genetic syndrome after Down syndrome, although new research suggests it could affect 1 in 1000 live births. The 22q11.2 Duplication is said to be more prevalent. 
   

• 22q11.2 DS is the most common genetic syndrome associated with cleft palates

  • 65% of patients will have a cleft palate or palate abnormality​
     

• 22q11.2 DS is the second most common genetic syndrome associated with congenital heart defects.

  • 75% of patients will have some form of Congenital Heart Defect, click here for more information
     

• Research suggest that 90% of the 22q11.2 DS population will have a learning difficulty or disability

  • Learning impairments occur for almost all people living with 22q11.2DS, visit our education page to find useful information for schools
     

• Almost all people with 22q11.2 DS population will experience mental illness issues including anxiety, stress and depression, however this can be managed
   

  • 25% of 22q11.2DS patients are said to develop a phychosis, although research suggest this figure may be reducing with early detection due to increased understanding into risk factors
     

  • Nearly half (45%) of the general population (non VCFS/22q11.2DS) in Australia will experience a mental disorder at some stage in their lives.
     

• 22q11.2 DS has more than 180 anomalies associated with it

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22q11.2 Deletion Syndrome is also known as:
 

• VCFS

• DiGeorge Sequence (DGS)

• Shprintzen Syndrome

• CATCH 22

• Conotruncal anomaly face syndrome

• Cayler cardiofacial syndrome.

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Click the image above for 22q an overview by Donna McDonald McGinn
(conference 2019- Brisbane QLD)