A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation

Am J Med Genet A. 2009 Nov;149A(11):2560-3. doi: 10.1002/ajmg.a.33049.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 16 / genetics*
  • Face / abnormalities*
  • Female
  • Gene Duplication*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics*
  • Male
  • Pregnancy
  • Trisomy / genetics