Info for Medical Professionals
In the past…
- The condition was under-recognized, especially in adults
- This is due to the variety of symptoms and the different levels of severity
- The condition was known by many names
- e.g. DiGeorge syndrome, velocardiofacial syndrome etc.
- Only individuals with very rare deletions that were visible under the microscope could be diagnosed
- Individuals with severe symptoms (e.g. heart defects) did not survive
- Advances in genetic testing allow all individuals with typical and even smaller deletions to be diagnosed
- Individuals with 22q11.2DS have deletions in region q11.2 of chromosome 22
- Most individuals are found to have de novo (new) deletions (as opposed to inherited deletions)
- The prevalence of the deletion appears to be similar among all ethnic groups e.g. white, black, and Asian people.
- Many possible symptoms, affecting many body systems, have been associated with 22q11.2DS
- There is a move towards having just one name for the condition: 22q11.2 Deletion Syndrome
- The deletion is present in at least 1 in 2000 live births and this number may be rising.
“The 22q11.2 deletion is the second most common cause of developmental delay and major congenital heart disease after Down syndrome, accounting for approximately 2.4% of individuals with developmental disabilities and approximately 10% to 15% of individuals with tetralogy of Fallot.” Bassett et al. 2011
The Dalglish Family 22q Clinic serves individuals with 22q11.2DS who are at least 17 years of age. We have medical doctors from different specialties, a social worker, and a dietitian - all at one location. Please see our referral section for more information.