Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications

Am J Med Genet. 2000 Summer;97(2):128-35. doi: 10.1002/1096-8628(200022)97:2<128::aid-ajmg4>;2-z.


In this contribution we review current knowledge of the chromosome 22q11 deletion syndrome, with special emphasis on the clinical characteristics, including physical features, cognitive-behavioral spectrum, and psychiatric complications.

Publication types

  • Review

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / psychology
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / psychology
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / psychology*
  • Syndrome