22q11.2 Deletion Syndrome: Genetics, Neuroanatomy and Cognitive/Behavioral Features Keywords

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.

Keywords:

• 22q11.2 Deletion Syndrome
• velocardiofacial syndrome
• DiGeorge syndrome
• neuropsychology
• genetic
• review