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The clinical benefit of array-based comparative genomic hybridization for detection of copy number variants in Czech children with intellectual disability and developmental delay

Abstract Background Chromosomal microarray analysis has been shown to be a valuable and cost effective assay for elucidating copy number variants (CNVs) in children with intellectual disability and developmental delay (ID/DD). Methods In our study, we performed array-based comparative genomic hybrid...

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Principais autores: Marketa Wayhelova, Jan Smetana, Vladimira Vallova, Eva Hladilkova, Hana Filkova, Marta Hanakova, Marcela Vilemova, Petra Nikolova, Barbora Gromesova, Renata Gaillyova, Petr Kuglik
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2019-07-01
סדרה:BMC Medical Genomics
נושאים:
Intellectual disability
Developmental delay
Microdeletion
Microduplication
CNV
Array-CGH
גישה מקוונת:http://link.springer.com/article/10.1186/s12920-019-0559-7
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