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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. Associated conditions include kidney problems, schizophrenia, hearing loss and autoimmune disorders such as rheumatoid arthritis or Graves' disease.
References
- ↑ Ozgen HM, Hop JW, Hox JJ, Beemer FA, van Engeland H (2008). "Minor physical anomalies in autism: a meta-analysis". Mol Psychiatry. 15 (3): 300–7. doi: 10.1038/mp.2008.75 . PMID 18626481.
- ↑ Ismail, B I, Cantor-Graso, E, and McNeil, T P (1998). "Minor Physical Anomalies in Schizophrenic Patients and their Siblings," American Journal of Psychiatry, 155:1695-1702
- ↑ Baher Ismail, Elizabeth Cantor-Graae, Thomas F McNeil. "Minor physical anomalies in schizophrenic patients and their siblings." The American Journal of Psychiatry. Washington: December 1998. Vol. 155, Iss. 12; pg. 1695.
- ↑ Guillermo Millicovsky, Malcolm C. Johnston, Proceedings of the National Academy of Sciences of the United States of America, Vol. 78, No. 9, [Part 2: Biological Sciences] (Sep., 1981), pp. 5722-5723
- ↑ Rob Helton, Jiankun Cui, John R. Scheel, Julie A. Ellison, Chris Ames, Claire Gibson, Barbara Blouw, Ling Ouyang, Ioannis Dragatsis, Scott Zeitlin, Randall S. Johnson, Stuart A. Lipton, and Carrolee Barlow, April 20, 2005, Brain-specific knock-out of Hypoxia inducible factor -1alpha, reduces — rather than increases hypoxia-ischemic damage, The Journal of Neuroscience, pp 4099-4107, http://www.jneurosci.org/cgi/content/full/25/16/4099/TBL2.
- ↑ Mátyás Trixler, M.D., Ph.D., Tamás Tényi, M.D., Györgyi Csábi, M.D., Gizella Szabó, M.D., and Károly Méhes, M.D., Ph.D., Sc.D; 1997 Informative Morphogenetic Variants in Patients With Schizophrenia, and Alcohol-Dependent Patients: Beyond the Waldrop Scale, 154:691–693 . http://ajp.psychiatryonline.org/cgi/reprint/154/5/691.pdf
- ↑ See Toyota et al., (2004) Vol 13(5) "Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B"; Human Molecular Genetics; p551; (http://hmg.oxfordjournals.org/cgi/content/abstract/13/5/551 as of 13-12-07).
- ↑ R. Huo, S.K. Burden, C.S. Hoyt and W.V. Good; "Chronic cortical visual impairment in children: aetioloy, prognosis and associated neurological deficits"; The British Journal of Ophthalmology [Br J Ophthalmol], 1999 Jun; Vol. 83 (6).