alexa Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes.


Autism-Open Access

Author(s): Kalsner L, Chamberlain SJ

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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. Copyright © 2015 Elsevier Inc. All rights reserved.
This article was published in Pediatr Clin North Am and referenced in Autism-Open Access

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