Info for Medical Professionals

Quick Overview

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
  • 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 about 1 in 2148 live births.
“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.

[Return to top]