What is 22q11.2 deletion syndrome?
22q11.2 deletion syndrome (“22q11”) means a genetic disorder that is also referred to as Velo-Cardio-Facial Syndrome (VCFS), Shprintzen syndrome, and /or DiGeorge syndrome. The syndrome is identified when genetic tests confirm that a small part of a patient’s chromosome 22 at the q11 region is missing.
It is one of the most common genetic disorders.
A diagnosis of 22q11.2 should not be made unless the deletion is confirmed by genetic testing. A parent who has the deletion has a 50% chance of passing it on to each offspring. However, research has shown that most cases of 22q11.2 are caused by a new mutation, meaning that neither parent has the deletion. The region on chromosome 22 that is deleted is located at a “hot spot” in the human genome, a place where rearrangements are likely to occur. That is why most cases are new mutations.
More than 180 anomalies have been reported in people with 22q11.2, but expression of the syndrome is highly variable from person to person and no person has all the anomalies.
There is no cure for 22q11.2, but there are ways to treat the various problems associated with the syndrome.
It is important to realise that people with 22q11 do not always respond to the same treatments as people with similar problems who do not have 22q11.2. Some treatments are even syndrome specific.
Therefore, it is important for professionals caring for children and adults with 22q11.2 to be knowledgeable about the syndrome. Palate, speech, immune and attention issues are several areas in which treatment may differ.