22q11 Deletion Syndrome occurs in approximately 1-4000 births. It happens when a small band of chromosome 22 at the q11.2 area are missing.
The Genereview entry on 22q11 Deletion Syndrome gives one of the best overviews of the disorder.
22q11 Deletion has been described by many different names, The 22q11.2 Deletion Sydrome, Velocardiofacial syndrome, DiGeorge Syndrome, Conotruncal Anomaly Face syndrome, Opitz G/BBB Syndrome, Cayler Cardiofacial Syndrome and this is because of the history of how it was initially described by different people. To understand more about the history and name issues, read the History of 22q11- from the CHOP website, the Same Name Campaign from the 22q11 Deletion International Foundation and The Name Game from the Velocardiofacial Syndrome Educational Foundation website.
22q11 Deletion can result in a variety of effects on a person - about 180 different findings have been listed, but some common features can incude heart defects, immune system problems, a distinctive facial appearance, learning challenges, cleft palate, hearing loss, kidney problems, hypocalcemia, and sometimes psychiatric issues. The Velocardiofacial Syndrome Educational Syndrome Foundation offers an excellent fact sheet describing the known findings.
C22C has more members with this deletion syndrome than any other condition.
There are so many excellent websites offering information on this condition, and the following are only a few. If you know of a site that should be listed here, please email us. Please visit:
MaxAppeal - UK
The 22q and You Centre - Children's Hospital of Philadelphia
Cognitive Analysis and Brain Imaging Laboratory - UC Davis MIND Institute
VCFS 22q11 Foundation - Australia