Date of Award

1-1-2005

Degree Type

Thesis

Degree Name

Master of Science

Faculty

Faculty of Computing, Health and Science

First Advisor

Professor Allen BIttles

Second Advisor

Dr Emma Glasson

Third Advisor

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.

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