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 article

Abstract

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
Volume11
Issue number1
DOIs
StatePublished - Feb 1 2005
Externally publishedYes

Keywords

  • 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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  • Cite this

    Antshel, K. M., Kates, W. R., Roizen, N., Fremont, W., & Shprintzen, R. J. (2005). 22q11.2 Deletion Syndrome: Genetics, neuroanatomy and cognitive/behavioral features. Child Neuropsychology, 11(1), 5-19. https://doi.org/10.1080/09297040590911185