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22q11.2 Deletion Syndrome

22q11.2 deletion syndrome is a genetic condition also referred to as DiGeorge or velocardiofacial syndrome, 22q11, or 22q.  It is caused when a part of chromosome 22 is missing (deleted).  This syndrome can happen by chance, or it can run in families.  The symptoms of this condition can be quite variable, even within families.  Sometimes people with a mild form of 22q11.2 don't know they have it until they have a child that is diagnosed with a more severe form of the condition.

Symptoms

• Heart abnormalities
• Cleft palate
• Learning difficulties
• Immune deficiency

Causes/Risk Factors

• Deletion on chromosome 22q11.2
• Family history of 22q11.2 deletion syndrome

Genetic Test/Carrier Screen

The following genetic tests can detect a 22q11.2 deletion and may be appropriate based on your personal and/or family history.

• Prenatal Testing
  
  • Chorionic Villus Sampling (CVS)
  • Amniocentesis
• Postnatal Testing
  
  • Blood draw

See our pre-conception and prenatal services

Schedule an Appointment

To speak with a board-certified genetic counselor about your risks for this disease:

• Schedule genetic counseling appointment online
• Or call 1-800-975-4819
• Send email

Learn More

The International 22q11.2 Deletion Syndrome Foundation

National Library of Medicine Genetics Home Reference

Support Groups

Chromosome 22 Central