Article
Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman syndromes.
Molecular human reproduction - 1 Apr 1997
Glenn C C, Driscoll D J, Yang T P, Nicholls R D
Abstract excerpt
The Prader-Willi (PWS) and Angelman (AS) syndromes are two clinically distinct syndromes which result from lack of expression of imprinted genes within chromosome 15q11-q13. These two syndromes result from 15q11-q13 deletions, chromosome 15 uniparental disomy (UPD), imprinting centre mutations and, for AS, probable mutations in a single gene. The differential phenotype results from a paternal genetic deficiency...
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