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

Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C. Carey

Research output: Contribution to journal › Article

Abstract

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

Original languageEnglish
Pages (from-to)589-599
Number of pages11
JournalEuropean Journal of Paediatric Neurology
Volume17
Issue number6
DOIs
Publication statusPublished - Nov 2013

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Routine Diagnostic Tests
Intellectual Disability
Autism Spectrum Disorder

Keywords

  • Array-CGH
  • Autism spectrum disorders
  • Chromosomal microarray (CMA)
  • Developmental delay
  • Dysmorphic features
  • Intellectual disability
  • Neurodevelopmental disorders

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. / Battaglia, Agatino; Doccini, Viola; Bernardini, Laura; Novelli, Antonio; Loddo, Sara; Capalbo, Anna; Filippi, Tiziana; Carey, John C.

In: European Journal of Paediatric Neurology, Vol. 17, No. 6, 11.2013, p. 589-599.

Research output: Contribution to journal › Article

Battaglia, A, Doccini, V, Bernardini, L, Novelli, A, Loddo, S, Capalbo, A, Filippi, T & Carey, JC 2013, 'Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features', European Journal of Paediatric Neurology, vol. 17, no. 6, pp. 589-599. https://doi.org/10.1016/j.ejpn.2013.04.010
Battaglia A, Doccini V, Bernardini L, Novelli A, Loddo S, Capalbo A et al. Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. European Journal of Paediatric Neurology. 2013 Nov;17(6):589-599. https://doi.org/10.1016/j.ejpn.2013.04.010
Battaglia, Agatino ; Doccini, Viola ; Bernardini, Laura ; Novelli, Antonio ; Loddo, Sara ; Capalbo, Anna ; Filippi, Tiziana ; Carey, John C. / Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. In: European Journal of Paediatric Neurology. 2013 ; Vol. 17, No. 6. pp. 589-599.
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