Clarke Raymond A, Fang Zhi Ming, Diwan Ashish D, Gilbert Donald L
St George Clinical School, Faculty of Medicine, St George Hospital, University of NSW, Kogarah, NSW 2217, Australia.
Case Rep Med. 2009;2009:361518. doi: 10.1155/2009/361518. Epub 2009 Dec 22.
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.
这是关于Klippel-Feil综合征（KFS）、图雷特综合征（TS）、运动刻板症和强迫行为与22q11.2染色体重复综合征（22q11DupS）关联的首例病例描述。22q11.2缺失患者的神经精神症状，包括强迫行为、焦虑、多动以及之前一例TS病例报告，都归因于儿茶酚-O-甲基转移酶（COMT）的低拷贝数效应。然而，目前这例独特的22q11DupS与TS病例表明，无论是低COMT活性还是高COMT活性，亦或是该基因座上的其他基因，都存在更为复杂的关系。
