, Volume 14, Issue 3–4, pp 197–203 | Cite as

Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature

  • Birgitte Bertelsen
  • Nanette Mol Debes
  • Lena E. Hjermind
  • Liselotte Skov
  • Karen Brøndum-Nielsen
  • Zeynep TümerEmail author
Original Article


Tourette syndrome (TS) is a childhood-onset complex neurobiological disorder characterized by a combination of persistent motor and vocal tics and frequent presence of other neuropsychiatric comorbidities. TS shares the fate of other complex disorders, where the genetic etiology is largely unknown, and identification of susceptibility genes through linkage and association studies has been complicated due to inherent difficulties such as no clear mode of inheritance, genetic heterogeneity, and apparently incomplete penetrance. Positional cloning through mapping of disease-related chromosome rearrangements has been an efficient tool for the cloning of disease genes in several Mendelian disorders and in a number of complex disorders. Through cytogenetic investigation of 205 TS patients, we identified three possibly disease-associated chromosome rearrangements rendering this approach relevant in chasing TS susceptibility genes.


Chromosome rearrangement Cytogenetics Tourette syndrome 



The study is supported by The Lundbeck Foundation (R24-A219), and BB is currently funded by a scholarship from the University of Copenhagen.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Birgitte Bertelsen
    • 1
  • Nanette Mol Debes
    • 2
  • Lena E. Hjermind
    • 3
    • 4
  • Liselotte Skov
    • 2
  • Karen Brøndum-Nielsen
    • 1
  • Zeynep Tümer
    • 1
    Email author
  1. 1.Applied Human Molecular Genetics, Kennedy CenterRigshospitalet, Copenhagen University HospitalGlostrupDenmark
  2. 2.The Tourette Clinic, Department of PediatricsHerlev University HospitalHerlevDenmark
  3. 3.Memory Disorders Research Group, Neurogenetics Clinic, Department of NeurologyRigshospitalet, Copenhagen University HospitalCopenhagenDenmark
  4. 4.Section of Neurogenetics, Department of Cellular and Molecular Medicine, Panum InstituteUniversity of CopenhagenCopenhagenDenmark

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