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H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia Genet. Mol. Biol.
Gomes,Marcus Vinícius de Matos; Santos,Sílvio Avelino dos; Ramos,Ester Silveira.
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. The cause of isolated hemihyperplasia (IHH) is unknown but might be due to partial or incomplete expression of BWS because both these conditions share predisposition for the same types of neoplasias. We investigated the methylation pattern of the putative imprinting control region H19DMR using peripheral blood from 12 patients, six with clinical features of BWS and six with IHH. All the patients had normal karyotypes and paternal uniparental disomy (UPD) was excluded in 10 informative cases. The normal H19DMR methylation pattern was found in eight informative patients, indicating that H19DMR methylation...
Tipo: Info:eu-repo/semantics/other Palavras-chave: Beckwith-Wiedemann syndrome; Isolated hemihyperplasia; Genomic imprinting; DNA methylation; Uniparental disomy; H19DMR.
Ano: 2005 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572005000200005
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