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A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect

Content Provider	Scientific Electronic Library Online (SciELO)
Author	De Molfetta, Greice Andreotti Felix, Temis Maria Riegel, Mariluce Ferraz, Victor Evangelista de Faria Pina Neto, João Monteiro de
Abstract	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 microsatellite analysis showed heterozygous loci inside and outside the 15q11-13 region. The presence of these atypical cases could be more frequent than previously expected and we reinforce that the DNA methylation analysis is important for the correct diagnosis of severe mental deficiency, congenital hypotonia and obesity.
Related Links	http://www.scielo.br/scielo.php?script=sci_abstract&pid=S0004-282X2002000600024&lng=en&nrm=iso http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2002000600024&lng=en&nrm=iso
Starting Page	1011
Ending Page	1014
Page Count	4
File Format	PDF
ISSN	00042820
DOI	10.1590/S0004-282X2002000600024
Journal	Arquivos de Neuro-Psiquiatria
Issue Number	4
Volume Number	60
Language	English
Publisher	Academia Brasileira de Neurologia - ABNEURO
Publisher Date	2002-12-01
Publisher Institution	University of São Paulo School of Medicine from Ribeirão Preto Genetics Department Hospital de Clinicas de Porto Alegre Medical Genetics Service
Publisher Place	Brazil
Access Restriction	Open
Subject Keyword	Angelman syndrome Prader-Willi syndrome Imprinting defect Síndrome de Angelman Síndrome de Prader-Willi Defeito no centro de imprinting
Alternative Title	Outro caso de fenótipo da síndrome de Prader-Willi em um paciente com defeito molecular da síndrome de Angelman
Content Type	Text
Resource Type	Article

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