Med. Molec. Clinical variability of the 22q11.2 duplication syndrome. [Full Text], de La Rochebrochard, C., Joly-Helas, G., Goldenberg, A., Durand, I., Laquerriere, A., Ickowicz, V., Saugier-Veber, P., Eurin, D., Moirot, H., Diguet, A., de Kergal, F., Tiercin, C., Mace, B., Marpeau, L., Frebourg, T.

(2006) studied 295 patients with widely variable manifestations associated with DGS/VCFS and identified 12 patients who carried a 22q11.2 deletion, but no patients with 22q11.2 microduplication were identified. Mukaddes NM, Herguner S. Autistic disorder and 22q11.2 duplication. Ensenauer et al. In most cases, parents do not have any chromosomal anomaly. 2008 Mar It is important to note that having a risk factor does not mean that one will get the condition.

See full list of 33 Clin Genet. Expert curators Genet. ORPHA: 1727;   accessible. [PubMed: 17041934, related citations] A support group for families and individuals seeking support for chromosome 22 disorders. Med. [Full Text: https://doi.org/10.1002/ajmg.a.31227], Edelmann, L., Pandita, R. K., Spiteri, E., Funke, B., Goldberg, R., Palanisamy, N., Chaganti, R. S. K., Magenis, E., Shprintzen, R. J., Morrow, B. E. Wentzel et al. (2008) reported 2 unrelated families with 22q11.2 microduplication. But because there are likely so many individuals who remain undiagnosed, it is hard for doctors to estimate the prevalence of this syndrome. [PubMed: 18076674, related citations] Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems.

[PubMed: 19617637, images, related citations] For many of these genes, little is known about their function. Brunet, A., Gabau, E., Perich, R. M., Valdesoiro, L., Brun, C., Caballin, M. R., Guitart, M. J. Hum. A duplication was found in chromosome 22, with two break points, both in the band known as 11.2. If your child is noted to be behind in any areas, appropriate interventions will be recommended. Europ. Genetics Home Reference content now can be found in the "Genetics" section of MedlinePlus. [Full Text], Sahoo, T., Theisen, A., Rosenfeld, J. No two people are ever exactly alike, even when they have the same syndrome, and not every person with the duplication is affected in the same way.

Trisomy 22 means that a person has three copies of the 22nd chromosome instead of the expected two copies. An Overview of 22q11.2 Duplication The 22q11.2 Duplication is about half as common as the 22q11.2 deletion (so found in about 1/4000 newborns). Population analysis of large copy number variants and hotspots of human genetic disease. 2008 Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak muscle tone (hypotonia). 140A: 1608-1613, 2006. The geneticist is the person who’s most likely to have an overview of your child’s diagnosis. Many people with the duplication have no apparent physical or intellectual disabilities. Cotter et al. BAC transgenic mice and wildtype mice were tested for their cognitive capacities, affect- and stress-related behaviors, and motor activity at 1 and 2 months of age. Am. Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. 1999;36:237-241. 2008 Feb;73(2):160-4. Please see our Terms of Use. Eur J Hum Genet. The duplication occurs near the middle of the chromosome at a location designated q11.2. B., Schultz, R. A., Torchia, B. S., Neill, N., Casci, I., Bejjani, B. Biol Psychiatry. What Trisomy 22 Means . A., Lamb, A. N., Ravnan, J. Behavioral and learning differences including ADHD, autism, Asperger Syndrome, etc. Ada Hamosh, MD, MPH Because many individuals with this duplication have no associated symptoms, their duplication may never be detected. J. Hum. [PubMed: 18076674] Brunet et al. Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Families can benefit from the opportunity to meet other children and adults with the 22q11.2 duplication and/or to converse with them through diagnosis-specific internet sites. Many people with the duplication have no apparent physical or intellectual disabilities. Courtens et al. Gibbons G, et al. Genet. 2008 Dec;50(12):953-5. doi: (2008) reviewed the clinical features of 36 published cases of the 22q11.2 duplication syndrome.

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