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

Pediatr Clin North Am. 2015 Jun;62(3):587-606. doi: 10.1016/j.pcl.2015.03.004. Epub 2015 Apr 22.


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.

Publication types

  • Review

MeSH terms

  • Angelman Syndrome / genetics*
  • Child
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 15 / genetics
  • DNA Methylation
  • Epigenesis, Genetic
  • Gene Dosage
  • Gene Duplication
  • Gene Expression
  • Humans
  • Intellectual Disability / genetics*
  • Prader-Willi Syndrome / genetics*

Supplementary concepts

  • Duplication 15q11-q13 Syndrome