|
|||||
|
|
Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature |
|
| Authors: | Wang Jing Xiao Ling Wang Junling Ding Zijin Ni Jie Long Xiaoyan |
| Affiliation: | 1.Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China ;2.Laboratory of Medical Genetics, Central South University, Changsha, Hunan, People’s Republic of China ;3.Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, People’s Republic of China ;4.National Clinical Research Centre for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China ;5.Department of Neurology, Dingxi Second People’s Hospital, Dingxi, Gansu, People’s Republic of China ;6.Department of Anesthesiology, Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China ; |
| 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. MethodsWe 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. ResultsWe 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. |
| Keywords: | |
| 本文献已被 SpringerLink 等数据库收录！ | |