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

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 well-characterized 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

SUBMITTER: Pereira RR 

PROVIDER: S-EPMC4111347 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature