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

被引:0
|
作者
Claudia Ciaccio
Chiara Pantaleoni
Sara Bulgheroni
Francesca Sciacca
Stefano D’Arrigo
机构
[1] Fondazione IRCCS Istituto Neurologico Carlo Besta,Developmental Neurology Department
[2] Fondazione IRCCS Istituto Neurologico Carlo Besta,Department of Diagnostic and Technology, Laboratory of Cytogenetic, Unit of Neurological Biochemistry and Neuropharmacology
来源
The Cerebellum | 2020年 / 19卷
关键词
Array-CGH; Pediatric ataxia; Developmental delay; Intellectual disability; Cerebellar anomalies;
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中图分类号
学科分类号
摘要
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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页码:629 / 635
页数:6
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