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

doi:10.1016/j.ejpn.2013.04.010

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 › peer-review

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 language	English
Pages (from-to)	589-599
Number of pages	11
Journal	European Journal of Paediatric Neurology
Volume	17
Issue number	6
DOIs	https://doi.org/10.1016/j.ejpn.2013.04.010
Publication status	Published - Nov 2013

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

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Battaglia, A., Doccini, V., Bernardini, L., Novelli, A., Loddo, S., Capalbo, A., Filippi, T., & Carey, J. C. (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, 17(6), 589-599. https://doi.org/10.1016/j.ejpn.2013.04.010

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 › peer-review

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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