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

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

Author information

1
Department 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. Electronic address: Lkalsner@connecticutchildrens.org.
2
Department of Pediatrics, Connecticut Children's Medical Center, University of Connecticut School of Medicine, 505 Farmington Avenue, Farmington, CT 06032, USA; Departments of Genetics and Genome Sciences and Pediatrics, Connecticut Children's Medical Center, University of Connecticut Health Center, 400 Farmington Avenue, Farmington, CT 06030-6403, USA. Electronic address: chamberlain@uchc.edu.

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.

KEYWORDS:

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

PMID:
26022164
PMCID:
PMC4449422
DOI:
10.1016/j.pcl.2015.03.004
[Indexed for MEDLINE]
Free PMC Article

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