Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.

@article{Meins2005SubmicroscopicDI,
  title={Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome.},
  author={Moritz Meins and J{\"o}rg Lehmann and Fritz Gerresheim and Julia Herchenbach and Monica Hagedorn and K Hameister and J{\"o}rg T. Epplen},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 2},
  pages={e12}
}
R ett syndrome is an X linked mental retardation syndrome almost exclusively affecting girls, and has long been regarded as an X linked dominant condition lethal in hemizygous males. Mutations in the gene encoding the methyl-CpG binding protein 2 (MECP2) were demonstrated as the cause of Rett syndrome, and confirmed by a number of studies. The vast majority (95%) of MECP2 mutations occurs de novo. Girls affected by ‘‘classic’’ Rett syndrome show mental retardation and regression, with a typical… CONTINUE READING
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