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Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present

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Abstract

Chromosomal microarray analysis is commonly used as screening test for children with neurodevelopmental issues, also in case of complex neurological phenotypes. Developmental delay/intellectual disability is a common presentation sign in pediatric ataxias, diseases with high clinical and genetic heterogeneity. In order to determine the diagnostic yield of Array-CGH in such conditions, all the tests performed in the last 10-year activity of a single referral center in children who present, besides the neurodevelopmental impairment, cerebellar abnormalities have been systematically gathered. The study demonstrates that, except for Dandy-Walker malformation or poly-malformative phenotypes, chromosomal microarray analysis should be discouraged as first-line diagnostic test in pediatric ataxias with neurodevelopmental disability.

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Authors and Affiliations

  1. Developmental Neurology Department, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy

    Claudia Ciaccio, Chiara Pantaleoni, Sara Bulgheroni & Stefano D’Arrigo

  2. Department of Diagnostic and Technology, Laboratory of Cytogenetic, Unit of Neurological Biochemistry and Neuropharmacology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy

    Francesca Sciacca

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  1. Claudia Ciaccio
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Correspondence to Claudia Ciaccio.

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Ciaccio, C., Pantaleoni, C., Bulgheroni, S. et al. Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present. Cerebellum 19, 629–635 (2020). https://doi.org/10.1007/s12311-020-01145-3

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