Welcome to the UC Davis MIND Institute and Center for Excellence in Developmental Disabilities (CEDD) resource page for 22q11.2 Deletion Syndrome

 

What is 22q11.2 Deletion Syndrome?

Chromosome 22q11.2 deletion syndrome, also called velocardiofacial syndrome and DiGeorge syndrome, is caused by the deletion of a small segment of the long arm of chromosome 22 and is linked to over 180 physical, psychological and behavioral anomalies.  Children with the syndrome experience some degree of developmental delay and learning difficulties. Most of these children have at least some of the following physical conditions: congenital heart defects, cleft palate or velopharyngealinsufficiencies, immune deficiencies or neonatal hypocalcemia.  Likewise, most of them are at increased risk for some of the following behavioral and psychological disorders: attention deficit hyperactivity disorder, autism spectrum disorders, oppositional-defiant disorder, obsessive-compulsive disorder and schizophrenia.

Medical Care Management

Medical Care Guidelines from International 22q11.2 Deletion Syndrome Consortium.
Bassett, A.S. et al. (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. Journal of Pediatrics 159, 332–9.  Article (PDF)

Fung, W. L. A. et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med (2015). doi:10.1038/gim.2014.175 Article (PDF)

MIND 22q11.2 Research Center and Clinic Medical Issues Video

Online Discussion Groups and Support for Parents or Affected Individuals

Videos

UC Davis MIND Institute videos and audio are now exclusively available on YouTube. You can go directly to our YouTube Channel or click on the presenters picture below to link to the YouTube video of the presentation.

Chromosome 22q11.2 Deletion Syndrome: An Introduction to Medical Issues22q11.2 Video Order Form

Chromosome 22q11.2 Deletion Syndrome: An Introduction to the Medical Issues Video


Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician who works with CABIL, provides an overview of the genetic causes and medical issues associated with Chromosome 22q11.2 Deletion Syndrome as well as ways in which they can be addressed.

The First Year and a Half: The Clark Family Interview

The Clark Family Interview Video


Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician who works with CABIL, interviews the Clarks who provide a candid discussion about raising their daughter Riley (1.5 years old) who has Chromosome 22q11.2 Deletion Syndrome.

The First Sixteen Years: The Heran Family Interview

The Heran Family Interview Video


Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician who works with CABIL, interviews Carrie and Kelley (16 years old) Heran who provide a candid discussion about what it's like living with Chromosome 22q11.2 Deletion Syndrome.

The websites listed are independent of the UC Davis MIND Institute and Center for Excellence in Developmental Disabilities (CEDD).  Resources are provided for information only and do not reflect the opinions or endorsement of the UC Davis MIND Institute and Center for Excellence in Developmental Disabilities.

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