Refinement of the critical region in a new 7p22.1 microduplication syndrome including craniofacial dysmorphism and speech delay

Am J Med Genet A. 2014 Nov;164A(11):2964-7. doi: 10.1002/ajmg.a.36715. Epub 2014 Aug 14.
No abstract available

Keywords: 7p22.1 microduplication; ACTB; craniofacial dysmorphism; intellectual disability.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Chromosome Duplication*
  • Chromosomes, Human, Pair 7*
  • Comparative Genomic Hybridization
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • Facies
  • Humans
  • Language Development Disorders / diagnosis
  • Language Development Disorders / genetics*
  • Male
  • Phenotype
  • Syndrome