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.
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