22q11.2 Deletion Syndrome: Genetics, neuroanatomy and cognitive/behavioral features

Kevin M. Antshel, Wendy R. Kates, Nancy Roizen, Wanda Fremont, Robert J. Shprintzen

Research output: Contribution to journalReview articlepeer-review

38 Scopus citations


This paper presents a conceptual review of the genetic underpinnings of 22q11.2 Deletion Syndrome. The neuroanatomical, neuropsychological, behavioral, and psychiatric phenotype associated with 22q11.2 Deletion Syndrome is also explored, including variables that are thought to affect symptom expression. The history of the deletion syndrome is described, and future directions for continued research are discussed.

Original languageEnglish (US)
Pages (from-to)5-19
Number of pages15
JournalChild Neuropsychology
Issue number1
StatePublished - Feb 2005
Externally publishedYes


  • 22q11.2 Deletion Syndrome
  • DiGeorge syndrome
  • Genetic
  • Neuropsychology
  • Review
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neuropsychology and Physiological Psychology
  • Developmental and Educational Psychology


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