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

Raymond A. Clarke | Zendy; Zhi Fang | Zendy; Ashish D. Diwan | Zendy; Donald L. Gilbert | Zendy

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

Author(s) -

Raymond A. Clarke,

Zhi Fang,

Ashish D. Diwan,

Donald L. Gilbert

Publication year - 2009

Publication title -

case reports in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.2

H-Index - 20

eISSN - 1687-9627

pISSN - 1687-9635

DOI - 10.1155/2009/361518

Subject(s) - gene duplication , locus (genetics) , deletion syndrome , tourette syndrome , medicine , chromosome , genetics , gene , psychiatry , biology , phenotype

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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