Chapter 6. The Prader-(Labhardt)-Willi Syndrome
Published Online: 19 MAR 2002
DOI: 10.1002/0471221937.ch6
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 Prader-(Labhardt)-Willi Syndrome, in Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects, John Wiley & Sons, Inc., New York, USA. doi: 10.1002/0471221937.ch6
Publication History
- Published Online: 19 MAR 2002
- Published Print: 15 OCT 2001
ISBN Information
Print ISBN: 9780471351269
Online ISBN: 9780471221937
- Summary
- Chapter
Keywords:
- Prader-Willi syndrome;
- DNA methylation;
- imprinting center;
- maternal UPD15;
- paternal deletion 15;
- translocations
Summary
This chapter describes the clinical phenotype and the different molecular causes of Prader-Willi syndrome (PWS). These include maternal UPD15, paternal deletion of the 15q11-q13 chromosomal region, imprinting mutations, and deletions and translocations involving the imprinting box. The molecular mechanisms leading to these lesions, and the potential contribution of genes in the PWS critical region to the phenotype are discussed. Attempts to establish phenotype-genotype correlations among patients with different molecular defects are described. A discussion of the diagnostic methods and genetic counseling of PWS is also provided.