Uniparental paternal disomy in Angelman's syndrome
作者： S. Malcolm , J. Clayton-Smith , M. Nichols , M.E. Pembrey , J.A.L. Armour
DOI: 10.1016/0140-6736(91)90278-W
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摘要: Abstract Angelman's syndrome and Prader-Willi are both causes of mental retardation with recognisable, but quite different, clinical phenotypes. Both associated deletions chromosome 15q11-13, maternal origin in paternal Prader-Willi. can arise by inheritance two chromosomes 15 from the mother none father (uniparental disomy). In 2 patients we found evidence uniparental disomy. The phenotypic effects disomy very different normal 15s one parent does not lead to development—strong man for genomic imprinting, which same gene has dependent upon its parental origin.
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