Array-CGH defined chromosome 1p duplication in a patient with autism spectrum disorder, mild mental deficiency, and minor dysmorphic features

Am J Med Genet A. 2010 Feb;152A(2):486-9. doi: 10.1002/ajmg.a.33212.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Child Development Disorders, Pervasive / genetics*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 1*
  • Comparative Genomic Hybridization*
  • DNA Mutational Analysis
  • Gene Duplication
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / genetics*
  • Male
  • Models, Genetic
  • Mutation
  • Phenotype