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De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy
Genetics in Medicine
  • Mehdi Zarrei
  • Darcy L Fehlings
  • Karizma Mawjee
  • Lauren Switzer
  • Bhooma Thiruvahindrapuram
  • Susan Walker
  • Daniele Merico
  • Guillermo Casallo
  • Mohammed Uddin
  • Jeffrey R MacDonald
  • Matthew J Gazzellone
  • Edward J Higginbotham
  • Craig Campbell, Western University
  • Gabrielle deVeber
  • Pam Frid
  • Jan Willem Gorter
  • Carolyn Hunt
  • Anne Kawamura
  • Marie Kim
  • Anna McCormick
  • Ronit Mesterman
  • Dawa Samdup
  • Christian R Marshall
  • Dimitri J Stavropoulos
  • Richard F Wintle
  • Stephen W Scherer
Document Type
Article
Publication Date
8-3-2017
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 (

Notes

Article available at Genetics in Medicine, Vol. 20(2).

https://doi.org/10.1038/gim.2017.83

Creative Commons License
Creative Commons Attribution 4.0
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 (2017) p. 172 - 180
Available at: http://works.bepress.com/craig-campbell/35/