| Title | 20号环状染色体综合征导致难治性癫痫1例及其同胞产前诊断 |
| Other Titles | A patient with intractable epilepsy due to ring chromosome 20 syndrome and prenatal diagnosis for his sibling |
| Authors | 刘玉鹏 丁圆 李东晓 杨志仙 宋金青 王爽 杨艳玲 秦炯 |
| Affiliation | 100044,开云app体育 人民医院儿科 100034,开云app体育 第一医院儿科 |
| Keywords | 20号环状染色体综合征 难治性癫痫 智力运动发育落后 染色体核型分析 Ring chromosome 20 syndrome Intractable epilepsy Mental retardation Karyotype analysis |
| Issue Date | 2017 |
| Publisher | 中华实用儿科临床杂志 |
| Citation | 中华实用儿科临床杂志. 2017, 32(14), 1108-1110. |
| Abstract | 目的 探讨20号环状染色体综合征导致难治性癫痫患儿的临床特征、核型特点及其同胞产前诊断.方法 收集分析开云app体育 人民医院诊治的1例20号环状染色体综合征导致难治性癫痫患儿的临床资料,并分析其临床表现、染色体核型特点.结果 先证者,男,出生11个月出现间断抽搐发作,表现为强直发作、不典型失神发作等多种类型,伴智力运动发育落后.曾正规服用多种抗癫痫药物及静脉注射丙种球蛋白治疗均无效.常规染色体核型分析及癫痫相关基因分析未见异常,外周血白细胞高分辨550条带G-显带染色体核型分析显示为46,XY,r(20) (p13q13.3),确诊为20号环状染色体综合征Ⅱ型.其母亲于第2次妊娠中期接受羊膜腔穿刺,羊水细胞染色体正常,第2胎为健康男婴,现在1岁,无癫痫发作,精神运动发育正常.结论 20号环状染色体综合征是罕见的染色体病,最常见的临床表现包括癫痫、行为异常、智力运动发育落后等.但由于染色体核型分析一般不作为癫痫的常规检查,20号环状染色体综合征导致癫痫的患儿易被漏诊或误诊.对于原因不明的难治性癫痫患儿,应进行高分辨染色体核型分析,以助明确病因. Objective To investigate the clinical features,karyotype,and the prenatal diagnosis for his sibling of a Chinese patient with rare ring chromosome 20 syndrome induced intractable epilepsy.Methods The clinical data of the patient diagnosed in Peking University People's Hospital were collected.The clinical manifestations,chromosome karyotype were summarized.Results The proband,a boy,started to show intermittent tonic seizures or atypical absence seizures and psychomotor retardation from the age of 11 months.Several anti-epilepsy drugs and globulin had been tried without effect.Common karyotype analysis and epilepsy-related genes analysis revealed no abnormality.However,abnormal karyotype 46,XY,r(20)(p13q13.3) in his peripheral blood lymphocytes was found by high resolution chromosome karyotype analysis with 550 G-banding,and the diagnosis of ring chromosome 20 syndrome,type Ⅱ was confirmed.The mother of the patient underwent amniocentesis at the midterm of the second pregnancy.The cultured amniocytes karyotypes were normal.The second child(a boy) of the family was 1 year old without epilepsy and the psychomotor development was normal.Conclusions Ring chromosome 20 syndrome is a rare human chromosome abnormality.The syndrome is associated with epileptic seizures,behavior disorders and mental retardation.Since karyotype testing is not a routine investigation for the patient with epilepsy,the diagnosis of ring chromosome 20 syndrome is usually delayed or misdiagnosed.The karyotype analysis should be considered for the etiological study of the patients with intractable epilepsy with unknown origin. |
| URI | http://hdl.handle.net/20.500.11897/476790 |
| ISSN | 2095-428X |
| DOI | 10.3760/cma.j.issn.2095-428X.2017.14.017 |
| Indexed | 中国科学引文数据库(CSCD) |
| Appears in Collections: | 人民医院 第一医院 |
