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	Provedor de dados BJMBR (1) Autor Mazzucato,L.F. (1) Pina-Neto,J.M. (1) Rodríguez,V.R. (1) Palavra-chave 1p36 microdeletion syndrome (1) Monosomy 1p36 (1) Prader-Willi syndrome (1) Prader-Willi-like phenotype (1) Tipo do documento Info:eu-repo/semantics/other (1) Ano 2008 (1) País Brazil (1) Idioma Inglês (1)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 1 Primeira ... 1 ... Última Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype BJMBR Rodríguez,V.R.; Mazzucato,L.F.; Pina-Neto,J.M.. Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two different phenotypes for 1p36 microdeletion has been suggested. The main objective of the present study was to determine the existence of 1p36 microdeletion in a sample of patients with mental retardation, obesity and hyperphagia who tested negative by the methylation test for Prader-Willi syndrome. Sixteen patients (7 females, 9 males), 16-26 years old, were evaluated with high-resolution cytogenetic analysis at 550-850 band levels and with 11 polymorphic microsatellite markers located in the 1p36 region.... Tipo: Info:eu-repo/semantics/other Palavras-chave: Monosomy 1p36; 1p36 microdeletion syndrome; Prader-Willi syndrome; Prader-Willi-like phenotype. Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2008000800007 Registros recuperados: 1 Primeira ... 1 ... Última

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