Publication:
Case Report: Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication

dc.contributor.author Clarke, Raymond A. en_US
dc.contributor.author Fang, Zhi-Ming en_US
dc.contributor.author Diwan, Ashish en_US
dc.contributor.author Gilbert, Donald L. en_US
dc.date.accessioned 2021-11-25T15:31:37Z
dc.date.available 2021-11-25T15:31:37Z
dc.date.issued 2009 en_US
dc.description.abstract 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. en_US
dc.identifier.uri http://hdl.handle.net/1959.4/44678
dc.language English
dc.language.iso EN en_US
dc.rights CC BY-NC-ND 3.0 en_US
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/3.0/au/ en_US
dc.source Legacy MARC en_US
dc.title Case Report: Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication en_US
dc.type Journal Article en
dcterms.accessRights open access
dspace.entity.type Publication en_US
unsw.accessRights.uri https://purl.org/coar/access_right/c_abf2
unsw.description.publisherStatement 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. en_US
unsw.identifier.doiPublisher http://dx.doi.org/10.1155/2009/361518 en_US
unsw.relation.faculty Medicine & Health
unsw.relation.ispartofjournal Case Reports in Medicine en_US
unsw.relation.originalPublicationAffiliation Clarke, Raymond A., Clinical School - St George Hospital, Faculty of Medicine, UNSW en_US
unsw.relation.originalPublicationAffiliation Fang, Zhi-Ming, Clinical School - St George Hospital, Faculty of Medicine, UNSW en_US
unsw.relation.originalPublicationAffiliation Diwan, Ashish, Clinical School - St George Hospital, Faculty of Medicine, UNSW en_US
unsw.relation.originalPublicationAffiliation Gilbert, Donald L., Cincinnati Children’s Hospital Medical Center en_US
unsw.relation.school Clinical School St George Hospital *
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