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De Novo and Rare Inherited Copy-Number Variations in the Hemiplegic Form of Cerebral Palsy
Genetics in Medicine
  • Mehdi Zarrei, The Hospital for Sick Children
  • Darcy L Fehlings, University of Toronto
  • Karizma Mawjee, University of Toronto
  • Lauren Switzer, University of Toronto
  • Bhooma Thiruvahindrapuram, The Hospital for Sick Children
  • Susan Walker, The Hospital for Sick Children
  • Daniele Merico, The Hospital for Sick Children
  • Guillermo Casallo, The Hospital for Sick Children
  • Mohammed Uddin, The Hospital for Sick Children
  • Jeffrey R MacDonald, The Hospital for Sick Children
  • Matthew J Gazzellone, The Hospital for Sick Children
  • Edward J Higginbotham, The Hospital for Sick Children
  • Craig Campbell, University of Western Ontario
  • Gabrielle deVeber, University of Toronto
  • Pam Frid, Western University
  • Jan Willem Gorter, McMaster University
  • Carolyn Hunt, Grandview Children's Centre
  • Anne Kawamura, University of Toronto
  • Marie Kim, ErinoakKids Centre for Treatment and Development
  • Anna McCormick, Ottawa Children's Treatment Centre
  • Ronit Mesterman, McMaster University
  • Dawa Samdup, Hotel Dieu Hospital
  • Christian R Marshall, The Hospital for Sick Children
  • Dimitri J Stavropoulos
  • Richard F Wintle, The Hospital for Sick Children
  • Stephen W Scherer, The Hospital for Sick Children
Document Type
Article
Publication Date
2-1-2018
URL with Digital Object Identifier
https://doi.org/10.1038/gim.2017.83
Disciplines
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 (

Citation Information
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, et al.. "De Novo and Rare Inherited Copy-Number Variations in the Hemiplegic Form of Cerebral Palsy" Genetics in Medicine Vol. 20 Iss. 2 (2018) p. 172 - 180
Available at: http://works.bepress.com/craig-campbell/2/