22q11.2 duplication
Last updated 8 Sept 2020
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22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.
Description
22q11.2 duplication is a condition caused by an extra copy of a small piece of chromosome 22. The duplication occurs near the middle of the chromosome at a location designated q11.2.
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 duplication have no apparent physical or intellectual disabilities.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Other names
Chromosome 22q11.2 duplication syndrome
Chromosome 22q11.2 microduplication syndrome
Further reading and references
- 22q11.2 duplication; MedlinePlus, National Library of Medicine.
- Courtens W, Schramme I, Laridon A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance?--Report of two families. Am J Med Genet A. 2008 Mar 15;146A(6):758-63. doi: 10.1002/ajmg.a.31910.
- Mukaddes NM, Herguner S. Autistic disorder and 22q11.2 duplication. World J Biol Psychiatry. 2007;8(2):127-30. doi: 10.1080/15622970601026701.
- Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr;10(4):267-77. doi: 10.1097/GIM.0b013e31816b64c2.
- Portnoi MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. doi: 10.1016/j.ejmg.2009.02.008. Epub 2009 Feb 28.
- Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. Dev Med Child Neurol. 2008 Dec;50(12):953-5. doi: 10.1111/j.1469-8749.2008.03048.x.
- Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suner D. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 2007 Jun;15(6):658-63. doi: 10.1038/sj.ejhg.5201819. Epub 2007 Mar 21.
- Wentzel C, Fernstrom M, Ohrner Y, Anneren G, Thuresson AC. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008 Nov-Dec;51(6):501-10. doi: 10.1016/j.ejmg.2008.07.005. Epub 2008 Jul 29.
- Yu S, Cox K, Friend K, Smith S, Buchheim R, Bain S, Liebelt J, Thompson E, Bratkovic D. Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication. Clin Genet. 2008 Feb;73(2):160-4. doi: 10.1111/j.1399-0004.2007.00938.x. Epub 2007 Dec 12.
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