Taylor L D, Krizman D B, Jankovic J, Hayani A, Steuber P C, Greenberg F, Fenwick R G, Caskey C T
Department of Pathology, Baylor College of Medicine, Houston, TX 77030.
Neurology. 1991 Sep;41(9):1513-5. doi: 10.1212/wnl.41.9.1513.
Gilles de la Tourette's syndrome (GTS) is a genetic disorder characterized by multiple motor and vocal tics, obsessive-compulsive disorder, and attention-deficit disorder. Family studies support the presence of an autosomal dominant gene; however, to date, an assignment for the GTS locus has not been made. We present the case of a boy with GTS and a deletion of the terminal portion of the short arm of chromosome 9, del(9)(qter----p2304:).
吉勒斯·德·拉·图雷特综合征(GTS)是一种遗传性疾病,其特征为多种运动性和发声性抽动、强迫症以及注意力缺陷障碍。家族研究支持常染色体显性基因的存在;然而,迄今为止,GTS基因座尚未明确。我们报告一例患有GTS且9号染色体短臂末端部分缺失,即del(9)(qter----p2304:)的男孩病例。