Use este identificador para citar ou linkar para este item: http://repositorio.bc.ufg.br/handle/ri/15525
Tipo do documento: Artigo
Título: Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from central Brazil
Autor: Pereira, Rodrigo Roncato
Pinto, Irene Plaza
Minasi, Lysa Bernardes
Melo, Aldaires Vieira de
Cunha, Damiana Mirian da Cruz e
Cruz, Alex Silva
Ribeiro, Cristiano Luiz
Silva, Cláudio Carlos da
Silva, Daniela de Melo e
Cruz, Aparecido Divino da
Abstract: Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and wellcharacterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies.
País: Estados unidos
Unidade acadêmica: Instituto de Ciências Biológicas - ICB (RG)
Citação: PEREIRA, Rodrigo Roncato; PINTO, Irene Plaza; MINASI, Lysa Bernardes; MELO, Aldaires Vieira de; CUNHA, Damiana Mirian da Cruz e; CRUZ, Alex Silva; RIBEIRO, Cristiano Luiz; SILVA, Cláudio Carlos da; SILVA, Daniela de Melo e; CRUZ, Aparecido Divino da. Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from central Brazil. Plos One, San Francisco, v. 9, n. 7, e103117, July 2014.
Tipo de acesso: Acesso Aberto
Identificador do documento: 10.1371/journal.pone.0103117
Identificador do documento: 10.1371/journal.pone.0103117
URI: http://repositorio.bc.ufg.br/handle/ri/15525
Data de publicação: Jul-2014
Aparece nas coleções:ICB - Artigos publicados em periódicos

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