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Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability.

Diana MicleaAdriana SzucsAndreea Manuela MireaDelia-Maria StefanFlorina NazarieSimona BucerzanCecilia LazeaAlina GramaTudor Lucian PopMarius FarcasGabriela ZaharieMelinda MatyasMonica MagerMihaela Adela VințanRadu PoppCamelia Alkhzouz
Published in: International journal of general medicine (2021)
This study showed that in cases with a specific clinical diagnosis the MLPA technique could be a useful alternative, less expensive and more efficient to indicate as first intention of a targeted diagnostic test, as it is the case of Williams syndrome, Prader-Willi syndrome or DiGeorge syndrome.
Keyphrases
  • copy number
  • intellectual disability
  • mitochondrial dna
  • autism spectrum disorder
  • case report
  • genome wide
  • dna methylation