18 号染色体镶嵌环状异常 1 例并文献复习：中国患儿癫痫发作
Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.
机构信息
Department of Neurology, Dingxi Second People's Hospital, Dingxi, Gansu, People's Republic of China.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
出版信息
Neurol Sci. 2021 Dec;42(12):5231-5239. doi: 10.1007/s10072-021-05143-z. Epub 2021 Apr 8.
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.
背景
环状染色体 18（r[18]）是一种罕见的综合征，其中染色体 18 的一个或两个末端丢失，剩余的染色体重新连接形成环状。其特征为发育迟缓/认知障碍、面部畸形和免疫问题。与癫痫相关的表型很少见，在中国尚未有报道。
方法
我们报告了一例 12 岁中国女孩，其表现为典型的面部畸形、发育迟缓、认知障碍、多动和癫痫，并通过与全球以前描述的病例进行比较，讨论了 r(18)综合征的临床特征。
结果
我们描述了所有已报道病例的癫痫发作特征，并提出 r(18)患者出现癫痫可能与染色体核型异常有关。需要进一步研究来证实这一点。
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