- What is 22q11.2 deletion syndrome and what causes it?
- What are the symptoms of 22q11.2 deletion syndrome?
- How is it diagnosed?
- What is the prognosis?
- What is the risk for other family members and future babies?
- What treatments/therapies/medications are recommended or available?
- How will my child and our family be impacted?
- I have a daughter with 22q11.2 deletion syndrome who has significant learning problems. She recently told me that she was pregnant. Will she have children with similar problems?
I have a daughter with 22q11.2 deletion syndrome who has significant learning problems. She recently told me that she was pregnant. Will she have children with similar problems?
22q11.2 Deletion Syndrome Foundation
Research, resources, and information for families with children who have 22q11.2 deletion syndrome.
Velo-Cardio-Facial Syndrome Education Foundation
An international, not-for-profit organization providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians, and other practitioners.
22q11.2 Deletion Syndrome (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; U.S. National Library of Medicine.
Velocardiofacial Syndrome (Genome.gov)
Medical information, educational materials, and a link to the genetic and rare disease information center; National Human Genome Research Institute.
Velocardiofacial Syndrome (OMIM)
Extensive review of 22q11.2 deletion syndrome with detailed information about the genetics of the condition; Online Mendelian Inheritance in Man.
22q11.2 Deletion Syndrome Educational Videos (MIND)
Three videos about 22q11.2 deletion syndrome that cover early childhood and adolescence; University of California at Davis Medical Investigation of Neurodevelopmental Disorders Institute.
22q11.2 Deletion Syndrome (GARD)
Links to informational resources, scientific conferences, clinical trials, etc. A "Have Questions" link allows users to submit questions to scientific experts; Genetic and Rare Diseases Information Center.
Chromosome 22q11.2 Deletion Syndrome (NORD)
Overview of the syndrome and its symptoms, causes, and related disorders, along with a list of related organizations; National Organization for Rare Disorders.
22q11.2 Deletion Syndrome (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information; sponsored by the U.S. National Center for Biotechnology Information, U.S. National Library of Medicine.
22q11.2 Resources - Birth to 5 Years (International 22q11.2 Foundation)
Includes information for families about typical developmental skills, early intervention, expectations at school, coordinating care, and associated behaviors.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
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|Compiled and edited by:||Lynne M Kerr, MD, PhD - 10/2012|
|Content Last Updated:||1/2016|
McDonald-McGinn DM, Sullivan KE.
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Medicine (Baltimore). 2011;90(1):1-18. PubMed abstract