Mental retardation and autism associated with recurrent 16p11.2 microdeletion: incomplete penetrance and variable expressivity

J Appl Genet. 2011 Nov;52(4):443-9. doi: 10.1007/s13353-011-0063-z. Epub 2011 Sep 20.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 16 / genetics*
  • Comparative Genomic Hybridization
  • Consanguinity
  • DNA Copy Number Variations
  • Female
  • Genetic Association Studies
  • Haploinsufficiency
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Karyotype
  • Male
  • Penetrance*