22q11.2 Deletion Syndrome
- Introduction
- 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?
Introduction
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?
Resources
Information & Support
For Parents and Patients
Support
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.
General
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.
International 22q11.2 Foundation
Extensive resources and support services for families and clinicians caring for those with 22q11.2 deletion syndrome.
Services in Nevada
Developmental - Behavioral Pediatrics
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Early Childhood Education/Preschool
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Early Intervention for Children with Disabilities/Delays
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Genetics, Prenatal
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Head Start/Early Head Start
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Neuropsychiatry/Neuropsychology
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Pediatric Gastroenterology
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Pediatric Genetic Counseling
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Pediatric Immunology/Rheumatology
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Psychiatrist, Child-18 (MD)
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Psychologist, Child-18 (PhD, PsyD)
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Speech - Language Pathologists
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For other services related to this condition, browse our Services categories or search our database.
Page Bibliography
McDonald-McGinn DM, Sullivan KE.
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Medicine (Baltimore).
2011;90(1):1-18.
PubMed abstract