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Case Reports in Medicine
Volume 2009, Article ID 361518, 5 pages
Case Report

Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication

1St George Clinical School, Faculty of Medicine, St George Hospital, University of NSW, Kogarah, NSW 2217, Australia
2Movement Disorders Clinics, Division of Pediatric Neurology, Cincinnati Children's Hospital Medical Center, ML # 11006 - Neurology, 3333 Burnet Avenue, Cincinnati, OH 45229-3039, USA

Received 14 July 2009; Accepted 26 October 2009

Academic Editor: Jean-Pierre Fryns

Copyright © 2009 Raymond A. Clarke et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


This is the first case description of the association of Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome 22q11.2 Duplication Syndrome (22q11DupS). Neuropsychiatric symptoms in persons with 22q11.2 deletion, including obsessive compulsiveness, anxiety, hyperactivity, and one prior case report of TS, have been attributed to low copy number effects on Catechol-O-Methyltransferase (COMT). However, the present unique case of 22q11DupS and TS suggests a more complex relationship involving another gene(s) at or near this locus.