Date of Award
1-1-2005
Document Type
Thesis
Publisher
Edith Cowan University
Degree Name
Master of Science
Faculty
Faculty of Computing, Health and Science
First Supervisor
Professor Allen BIttles
Second Supervisor
Dr Emma Glasson
Third Supervisor
Sheena Sullivan
Abstract
The present study examined the life histories of individuals In Western Australia with a diagnosis of Angelman or Prader-Willi syndrome. Angelman and Prader_Willi syndrome, are phenoypically diverse disorders both of which result from the failure of imprinting at the chrl5qll-q13 locus. In most cases, loss of the maternal imprint from the region leads to Angelman syndrome, while lack of a paternal pattern results in Prader-WilIi syndrome. Between 4-14% of Angelman cases have a mutation in a single gene, UBE3A.
Recommended Citation
Thomson, A. K. (2005). A comparative investigation of longevity and morbidity in Angelman syndrome and Prader-Willi syndrome. Edith Cowan University. Retrieved from https://ro.ecu.edu.au/theses/623