Here to Inform, Educate and Raise Awareness of 22q11.2 Deletion Syndrome
Currently the Foundations main focus is on the 22q Deletion. We have however provided a link to the International Foundation information on the duplication above. If you are interested in assisting us with being able to offer resources to support people affected by the duplication please contact us email@example.com. All references of 22q11.2DS on this website refer to the
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 DS affects approx. 1 in 2000 - 3000 persons making it the second most prevalent genetic syndrome after Down syndrome
- 22q11.2 DS is the most common genetic syndrome associated with cleft palates
- 22q11.2 DS is the second most common genetic syndrome associated with congenital heart defects
- 99% of the 22q11.2 DS population will have a learning difficulty or disability
- 30% of the 22q11.2 DS population will develop a mental illness. (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
22q11.2 Deletion Syndrome is also known as:
- DiGeorge Sequence (DGS)
- Shprintzen Syndrome
- CATCH 22
- Conotruncal anomaly face syndrome
- Cayler cardiofacial syndrome.
When a child's health problems are puzzling......A missing piece of genetic material on chromosome 22 (deletion 22q11) may be the clue. Percy Puzzle represents that little missing piece, and you can purchase a little Percy of your own to help raise awareness and show your support!
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