Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.

@article{Battaglia2013ConfirmationOC,
  title={Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.},
  author={Agatino Battaglia and Viola Doccini and Laura Bernardini and Antonio Novelli and Sara Loddo and Anna Capalbo and Tiziana Filippi and John C Carey},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={2013},
  volume={17 6},
  pages={
          589-99
        }
}
BACKGROUND AND OBJECTIVES Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants <1 Mb and identifies size and presence of known genes. The aim of this study was to demonstrate the usefulness of CMA, as a first-tier tool in detecting the etiology of unexplained intellectual disability/autism spectrum disorders (ID… CONTINUE READING

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