Changing rates of genetic subtypes of Prader-Willi syndrome in the UK

Eur J Hum Genet. 2007 Jan;15(1):127-30. doi: 10.1038/sj.ejhg.5201716. Epub 2006 Sep 6.


The genetically determined neurodevelopmental disorder, Prader-Willi syndrome (PWS), has two main genetic subtypes: a 15q11-q13 deletion affecting the paternally inherited chromosome 15 and chromosome 15 maternal uniparental disomy (mUPD) in which two maternal copies of chromosome 15 are inherited but no paternal copy. It has been accepted that these subtypes occur in approximately 70 and 25% of cases, respectively. This is the first report of a greater proportion (50%) of those with PWS due to mUPD in children presently under 5 years living in the UK. Increasing maternal age at conception is likely to explain the changing proportions in this generation of mothers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 15
  • Female
  • Genomic Imprinting
  • Humans
  • Infant
  • Maternal Age*
  • Prader-Willi Syndrome / epidemiology
  • Prader-Willi Syndrome / genetics*
  • Uniparental Disomy
  • United Kingdom / epidemiology