Article
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders.
American journal of medical genetics - 8 Dec 2001
Bolton P F, Dennis N R, Browne C E, Thomas N S, Veltman M W, Thompson R J, Jacobs P
Abstract excerpt
This study investigated the phenotypic manifestations of interstitial duplications of chromosome 15 that involve the Prader-Willi/Angelman syndrome critical region (PWACR). Twenty-one affected individuals from six families were evaluated in detail, using standardized and semi-standardized measures of intelligence, psychopathology, and physical anomalies. Special attention was placed on determining the prevalence...
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