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Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.


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, either for low- or high-COMT activity, or for other genes at this locus.

SUBMITTER: Clarke RA 

PROVIDER: S-EPMC2797364 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.

Clarke Raymond A RA   Fang Zhi Ming ZM   Diwan Ashish D AD   Gilbert Donald L DL  

Case reports in medicine 20091222


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  ...[more]

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