Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from central Brazil
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2014-07
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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.
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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.