De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia

Am J Med Genet A. 2009 Nov;149A(11):2554-6. doi: 10.1002/ajmg.a.33041.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Body Height
  • Child, Preschool
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22 / genetics*
  • Female
  • Gene Duplication*
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Pituitary Gland / abnormalities*
  • Pregnancy