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Medical Disclaimer
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.
State Agencies Addressing Disabilities
Resources by state that can help families and professionals address disability issues
Support the Sexual Health of Young People Experiencing I/DD
Sexual Health Equity for Individuals with Intellectual/Developmental Disabilities (SHEIDD) Project
Youth Sexual Health Equity Program, Multnomah County Health Department
May 2018
A Resource Collection on Trauma-Informed Care
Comprehensive information on: Basic information about trauma; basic principles that define trauma-informed care; trauma and specific populations; building trauma-informed schools; and responding to disasters.
Health Care and the Medical Home
Resources from The National Center for Medical Home Implementation about the medical home–what it is, how practictioners can work with families to create a medical home for a child or youth with disabilities affecting health, and much more
TRANSITION: Health & Wellness Resources
A collection of resource curated from the National RAISE Center, which focuses on transition to adulthood for youth/young adults with disabilities, ages 14 and up.