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Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes
Louisa Kalsner1, Stormy J Chamberlain2
1Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA; Department of Neurology, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA.
Abstract:
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from the loss of function or overexpression of at least 1 imprinted gene. This article discusses the clinical background, genetic cause, diagnostic strategy, and management of each of these 3 disorders.
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