The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies

Am J Med Genet A. 2006 Jul 15;140(14):1608-13. doi: 10.1002/ajmg.a.31227.
No abstract available

Publication types

  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Aneuploidy*
  • Chromosomes, Human, Pair 22 / genetics*
  • Cognition Disorders / genetics*
  • DiGeorge Syndrome / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant, Newborn
  • Male
  • Phenotype
  • Pregnancy