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The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.
22q11.2 Duplication Syndrome
Overview
22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22. The features of this condition vary widely, even among members of the same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner, with about 70 percent of affected individuals inheriting the condition from a parent. In other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.
Trusted Medical Sites
Genetic & Rare Diseases Information Center (GARD)
GARD provides the public with access to current, reliable, and easy-to-understand information about rare or genetic diseases in English or Spanish.
Support Organizations
Support organizations can provide help and guidance in areas such as peer matching, education and training, and therapy and counseling.
Disease Resources
Resources can help guide your quest for factual and reliable information.
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The Progeria Handbook; A Guide for Families and Health Care Providers of Children with Progeria.
This 100-page handbook helps answer many questions for children with Progeria about how to optimize quality of life through daily care and medical treatment. Contains basic health facts,daily care recommendations and extensive treatment guidelines.
Little Yellow Book
A parents guide to rare chromosome disorders