MIND Institute Resources
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, 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
- Prenatal Screening and Diagnostic Considerations for 22q11.2 Deletion Syndrome. 2022 (PDF)
- Practical guidelines for managing patients with 22q11.2 deletion syndrome.from International 22q11.2 Deletion Syndrome Consortium. 2011 (PDF)
- Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. 2022 (PDF)
- Practical guidelines for managing adults with 22q11.2 deletion syndrome. 2015 (PDF)
- Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. 2022 (PDF)
- Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management. 2019 (PDF)
- MIND 22q11.2 Research Center and Clinic Medical Issues Video (2009)
National Institutes of Health Information
- Clinical Trials Site (Search for 22q11.2 or VCFS)
- Genetics Home Reference page
- Genome Institute page
Online Discussion Groups and Support for Parents or Affected Individuals
Videos
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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.
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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.
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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.
The websites and resources listed are independent of the UC Davis MIND Institute and Center for Excellence in Developmental Disabilities. We do our best to choose sites and resources which reflect inclusion of people with neurodevelopmental disabilities and people with varying identities and positionalities, however, some older material may contain language that is not preferred or is not appropriate so please review with caution. 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.