22q11.2 deletion syndrome: genetics, neuroanatomy and cognitive/behavioral features keywords.
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.
Antshel
Kevin M
KM
Department of Psychiatry and Behavioral Sciences, SUNY-Upstate Medical University, Syracuse, NY 13210, USA. AntshelK@upstate.edu
Kates
Wendy R
WR
Roizen
Nancy
N
Fremont
Wanda
W
Shprintzen
Robert J
RJ
D000124:Achievement; D001289:Attention Deficit Disorder with Hyperactivity / Q000209:etiology; D001921:Brain / Q000002:abnormalities*; D002648:Child; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000175:diagnosis / Q000209:etiology*; D004252:DNA Mutational Analysis; D004062:DiGeorge Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005149:Facial Expression; D005838:Genotype; D006801:Humans; D007805:Language Development Disorders / Q000209:etiology; D008279:Magnetic Resonance Imaging; D010468:Perceptual Disorders / Q000209:etiology; D013028:Space Perception; D014796:Visual Perception