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.
Resources
- 22q Syndrome: What You Should Know | Patient Advice | US News
- 22q Family Foundation
- About Kids Health
- Children’s Hospital of Philadelphia: 22q and You Center
- IEP Workshop for Parents of kids with 22q11.2DS/VCFS - From Cincinnati Children's Hospital
- Chromosome 22 Central
- Cincinnati Children's Hospital 22q/VCFS Center
- Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2DS at University of Toronto
- International 22q11.2 Deletion Syndrome Foundation
- Seattle Children’s 22q Clinic
- VCFS/22q11 Foundation Australia
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
National Institutes of Health Information
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 Issues
Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician, 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
Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician, 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
Kathy Angkustsiri, M.D., a UC Davis MIND Institute Developmental Pediatrician, 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.
UC Davis MIND Institute
Chromosome 22q11.2 Deletion Syndrome Family Meeting Videos
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.