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Phenotype comparison among individuals with developmental delay/intellectual disability with or without genomic imbalances.

L C de SouzaA P Dos SantosI C SgardioliN L Viguetti-CamposJ R Marques ProtaR P de Oliveira-SobrinhoTársis Antonio Paiva VieiraV L Gil-da-Silva-Lopes
Published in: Journal of intellectual disability research : JIDR (2019)
Evidences point that every individual with DD/ID, with no specific clinical suspicion, should have screening for GIs as a first-tier test, regardless of the presence or absence of additional major anomalies or dysmorphisms. Future studies with a similar design would be helpful, especially in countries where the access to new technologies is still limited.
Keyphrases
  • intellectual disability
  • autism spectrum disorder
  • current status
  • copy number
  • genome wide
  • clinical evaluation