Paediatrics Publications
Document Type
Article
Publication Date
2-2018
Journal
Genetics in Medicine
Volume
20
Issue
2
First Page
172
Last Page
180
URL with Digital Object Identifier
https://doi.org/10.1038/gim.2017.83
Abstract
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (
