Article
Imprinting center analysis in Prader-Willi and Angelman syndrome patients with typical and atypical phenotypes.
European journal of medical genetics - 1 Jan 2000
Camprubí Cristina, Coll Maria Dolors, Villatoro Sergi, Gabau Elisabeth, Kamli Amine, Martínez Maria Jesus, Poyatos David, Guitart Miriam
Abstract excerpt
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic disorders caused by a deficiency of imprinted gene expression from the paternal or maternal chromosome 15, respectively. This deficiency is due to the deletion of the 15q11-q13 region, parental uniparental disomy of the chromosome 15, or imprinting defect (ID). Mutation of the UBE3A gene causes approximately 10% of AS cases. In this present study,...
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