An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2009.01363.x/fullpdf
Reference18 articles.
1. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl<-CpG-binding protein 2.;Amir;Nat Genet,1999
2. Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections;Smyk;Am J Med Genet B Neuropsychiatr Genet,2008
3. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males;Van Esch;Am J Hum Genet,2005
4. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome;Meins;J Med Genet,2005
5. Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males;del Gaudio;Genet Med,2006
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