Chapter 7. The Angelman Syndrome (AS)
Published Online: 19 MAR 2002
DOI: 10.1002/0471221937.ch7
Copyright © 2002 by Wiley-Liss, Inc.
Book Title
Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects
Additional Information
How to Cite
Engel, E. and Antonarakis, S. E. (2002) The Angelman Syndrome (AS), in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch7
Publication History
- Published Online: 19 MAR 2002
- Published Print: 15 OCT 2001
ISBN Information
Print ISBN: 9780471351269
Online ISBN: 9780471221937
- Summary
- Chapter
Keywords:
- Angelman syndrome;
- monosomy rescue;
- UBE3A gene;
- maternal deletion 15;
- imprinting mutations;
- imprinting center;
- paternal UPD15;
- isochromosome 15
Summary
This chapter describes the clinical phenotype and the different molecular causes of Angelman syndrome. These include paternal UPD15, maternal deletion of the 15q11-q13 chromosomal region, mutations in the UBE3A gene, and imprinting mutations. The molecular mechanisms of these lesions are discussed. There exist phenotype-genotype correlations among patients with different molecular defects. A discussion of the diagnostic methods and genetic counseling of AS is also provided.