Chromosome 22q11.2 duplication syndrome

Overview

What is 22q11.2 duplication syndrome?

22q11.2 duplication syndrome results when an individual has a duplicated region (extra genetic material) on part of one of their chromosome number 22s. The q11.2 refers to the specific location of the duplication on chromosome 22 (like the house number on a street). The features that this condition causes in an individual can be very different from person to person, even when there are multiple affected individuals in the same family. The most common findings in people with 22q11.2 duplication syndrome include developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). However, many individuals with the duplication have no known physical, intellectual or developmental problems. Medical geneticists and genetic counselors are often involved in the diagnosis and care of individuals with 22q11.2 duplication syndrome. For more information about genetic services in your area, you may ask your primary care physician for a referral. The National Society of Genetic Counselors website includes a searchable "Find a Genetic Counselor" directory, which may help you locate a genetic counselor in the United States and Canada.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/chromosome-22q112-duplication-syndrome/overview/3269 • DATE UPDATED: 2016-06-24

References

Unique. (2012). 22q11.2 duplications. Retrieved February 20, 2016, from http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20duplications%20FTNW.pdf

Genetics Home Reference. (2011). 22q11.2 duplication. Retrieved February 20, 2016, from http://ghr.nlm.nih.gov/condition/22q112-duplication

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