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.

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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What is 22q11.2 duplication syndrome called most often by doctors?

How many people have 22q11.2 duplication syndrome?

Are there other names for 22q11.2 duplication syndrome?

What is 22q11.2 duplication syndrome called most often by doctors?

Doctors most commonly refer to this condition as "22q11.2 duplication syndrome".

References
  • Genetics Home Reference. (2011). 22q11.2 duplication. Retrieved February 20, 2016, from http://ghr.nlm.nih.gov/condition/22q112-duplication
How many people have 22q11.2 duplication syndrome?

It is difficult to know for certain how common 22q11.2 duplication syndrome is in the general population, because many people with 22q11.2 duplication syndrome are likely undiagnosed. Most people diagnosed with 22q11.2 duplication syndrome have come to medical attention because of a medical or developmental concern, such as developmental delay or hypotonia (low muscle tone), in themselves or a family member. However, many people with 22q11.2 duplication syndrome have no known medical or developmental problems and so they would have no reason to be tested and diagnosed.

In one study (Van Campernhout et. al., 2012) more than 15,000 individuals with developmental problems were tested and approximately 1 in 320 had 22q11.2 duplication syndrome.

As of March 1st, 2016, over 100 people with 22q11.2 duplication syndrome have been reported in medical journals. In addition, other support groups such as Unique (a rare chromosome disorder group) and Chromosome 22 Central (supporting people with chromosome 22 disorders such as 22q11.2 duplication syndrome) know of over 100 families with this condition. There are probably many more people with 22q11.2 duplication that have not been diagnosed or reported in the medical literature.

References
  • Unique. (2012). 22q11.2 duplications. Retrieved February 20, 2016, from http://www.rarechromo.org/information/Chromosome%2022/22q11.2%20duplications%20FTNW.pdf
  • Firth HV. 22q11.2 Duplication. 2009 Feb 17 [Updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK3823/
  • Van Campenhout S, Devriendt K, Breckpot J, Frijns JP, Peeters H, Van Buggenhout G, Van Esch H, Maes B, Swillen A. Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood. Genet Couns. 2012;23:135-48.
  • Genetics Home Reference. (2011). 22q11.2 duplication. Retrieved February 20, 2016, from http://ghr.nlm.nih.gov/condition/22q112-duplication
Are there other names for 22q11.2 duplication syndrome?

22q11.2 duplication syndrome is also called chromosome 22q11.2 duplication syndrome or microduplication 22q11.2.

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

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