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

被引：2
|
作者：
Ciaccio, Claudia [1 ]
Pantaleoni, Chiara [1 ]
Bulgheroni, Sara [1 ]
Sciacca, Francesca [2 ]
D'Arrigo, Stefano [1 ]
机构：
[1] Fdn IRCCS Ist Neurol Carlo Besta, Dev Neurol Dept, Via Celoria 11, I-20133 Milan, Italy
[2] Fdn IRCCS Ist Neurol Carlo Besta, Dept Diagnost & Technol, Lab Cytogenet, Unit Neurol Biochem & Neuropharmacol, Milan, Italy
来源：
CEREBELLUM | 2020年 / 19卷 / 05期
关键词：
Array-CGH; Pediatric ataxia; Developmental delay; Intellectual disability; Cerebellar anomalies; COMPARATIVE GENOMIC HYBRIDIZATION; INTELLECTUAL DISABILITY; DELAY; DELETION; INDIVIDUALS;
D O I：
10.1007/s12311-020-01145-3
中图分类号：
Q189 [神经科学];
学科分类号：
071006 ;
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.
引用
收藏
页码：629 / 635
页数：7
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