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

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 obsessi...

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Detalles Bibliográficos
Autores principales: Clarke, Raymond A., Fang, Zhi Ming, Diwan, Ashish D., Gilbert, Donald L.
Formato: Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797364/
https://www.ncbi.nlm.nih.gov/pubmed/20069037
http://dx.doi.org/10.1155/2009/361518
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author Clarke, Raymond A.
Fang, Zhi Ming
Diwan, Ashish D.
Gilbert, Donald L.
author_facet Clarke, Raymond A.
Fang, Zhi Ming
Diwan, Ashish D.
Gilbert, Donald L.
author_sort Clarke, Raymond A.
collection PubMed
description 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, either for low- or high-COMT activity, or for other genes at this locus.
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spelling pubmed-27973642010-01-12 Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication Clarke, Raymond A. Fang, Zhi Ming Diwan, Ashish D. Gilbert, Donald L. Case Rep Med Case Report 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, either for low- or high-COMT activity, or for other genes at this locus. Hindawi Publishing Corporation 2009 2009-12-22 /pmc/articles/PMC2797364/ /pubmed/20069037 http://dx.doi.org/10.1155/2009/361518 Text en Copyright © 2009 Raymond A. Clarke et al. https://creativecommons.org/licenses/by/3.0/ 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.
spellingShingle Case Report
Clarke, Raymond A.
Fang, Zhi Ming
Diwan, Ashish D.
Gilbert, Donald L.
Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
title Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
title_full Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
title_fullStr Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
title_full_unstemmed Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
title_short Tourette Syndrome and Klippel-Feil Anomaly in a Child with Chromosome 22q11 Duplication
title_sort tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2797364/
https://www.ncbi.nlm.nih.gov/pubmed/20069037
http://dx.doi.org/10.1155/2009/361518
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