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

J Med Genet. 2005 Feb;42(2):e12. doi: 10.1136/jmg.2004.023804.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Chromosomes, Human, X*
  • Female
  • Gene Dosage
  • Gene Duplication*
  • Gene Expression
  • Humans
  • In Situ Hybridization, Fluorescence
  • Male
  • Methyl-CpG-Binding Protein 2 / genetics*
  • Methyl-CpG-Binding Protein 2 / metabolism
  • Pedigree
  • Rett Syndrome / diagnosis*
  • Rett Syndrome / genetics*

Substances

  • MECP2 protein, human
  • Methyl-CpG-Binding Protein 2