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.
Keywords: Angelman syndrome; Chromosome 15q11-q13 duplication; Copy number variation; DNA methylation; Genomic imprinting; Prader-Willi syndrome; SNRPN; UBE3A.
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