Jing Wang1, Ling Xiao2, Junling Wang2,3,4,5, Zijin Ding6, Jie Ni2,3, Xiaoyan Long7. 1. Department of Neurology, Dingxi Second People's Hospital, Dingxi, Gansu, People's Republic of China. 2. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China. 3. Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People's Republic of China. 4. Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People's Republic of China. 5. National Clinical Research Centre for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China. 6. Department of Anesthesiology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China. 7. Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China. 815236629@qq.com.
Abstract
BACKGROUND: Ring chromosome 18 (r[18]) is a rare syndrome in which one or both ends of chromosome 18 are lost and the remaining chromosome rejoins to form ring-shaped figures. It is characterized by developmental delay/cognitive disability, facial dysmorphisms, and immunological problems. The phenotype associated with epilepsy is rare and has not yet been reported in China. METHODS: We report herein the case of a 12-year-old Chinese girl who presented with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy and discuss the clinical features of r(18) syndromes through comparison with previously described cases worldwide. RESULTS: We describe the characteristics of all seizures that have been reported in these cases and propose that the appearance of epilepsy in r(18) patients may be associated with the abnormality of chromosome karyotypes. Further studies are warranted to confirm this.
BACKGROUND: Ring chromosome 18 (r[18]) is a rare syndrome in which one or both ends of chromosome 18 are lost and the remaining chromosome rejoins to form ring-shaped figures. It is characterized by developmental delay/cognitive disability, facial dysmorphisms, and immunological problems. The phenotype associated with epilepsy is rare and has not yet been reported in China. METHODS: We report herein the case of a 12-year-old Chinese girl who presented with typical facial dysmorphisms, developmental delay, cognitive disability, hyperactivity, and epilepsy and discuss the clinical features of r(18) syndromes through comparison with previously described cases worldwide. RESULTS: We describe the characteristics of all seizures that have been reported in these cases and propose that the appearance of epilepsy in r(18) patients may be associated with the abnormality of chromosome karyotypes. Further studies are warranted to confirm this.
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