Navegando por Palavras-chave "Copy number variations (CNVs)"

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    Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity
    (Biomed Central Ltd, 2018) D'Angelo, Carla Sustek; Varela, Monica Castro; Emilio de Castro, Claudia Irene; Otto, Paulo Alberto; Alvarez Perez, Ana Beatriz [UNIFESP]; Lourenco, Charles Marques; Kim, Chong Ae; Bertola, Debora Romeo; Kok, Fernando; Garcia-Alonso, Luis [UNIFESP]; Koiffmann, Celia Priszkulnik
    Background: Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical example. These rare forms of obesity provide a unique source for identifying obesity-related genetic changes. Chromosomal microarray analysis (CMA) has allowed the characterization of new genetic forms of syndromic obesity, which are due to copy number variants (CNVs)