Article
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect.
Arquivos de neuro-psiquiatria - 1 Dec 2002
De Molfetta Greice Andreotti, Felix Temis Maria, Riegel Mariluce, Ferraz Victor Evangelista de Faria, de Pina Neto João Monteiro
Abstract excerpt
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and...
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