An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient

Clin Genet. 2010 Jun;77(6):593-7. doi: 10.1111/j.1399-0004.2009.01363.x. Epub 2010 Mar 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chromosomes, Human, X / genetics*
  • Female
  • Gene Duplication*
  • Humans
  • Phenotype*
  • Rett Syndrome / genetics*
  • Translocation, Genetic / genetics*