MED13L综合征患者的临床表型及遗传学分析

发布时间：2018-05-22 09:44

  本文选题：MEDL综合征 + MEDL基因　； 参考：《中国当代儿科杂志》2017年10期

【摘要】：患者,男,4岁2个月,因语言、运动发育落后1年余就诊,并有步态不稳、眼神交流差、刻板行为及癫vN发作。查体发现面容特殊:斜头畸形、眼睑下垂、鼻梁扁平、两侧嘴角下沉、耳位较低等,以及左手小手指2节。辅助检查提示脊柱侧弯、室间隔缺损、语言发育迟缓和中度智力障碍,染色体核型无异常,全基因组SNP芯片技术检测发现患者12号染色体q24.21区域重复1个拷贝、大小为1.03Mb,患者父母该区域未见异常。确诊为MED13L综合征。MED13L基因点突变、缺失或重复突变均可导致MED13L综合征,不同的基因型可导致不同的临床表型。SNP技术可协助确诊。
[Abstract]:The patient, 4 years old and 2 months old, was treated for more than one year due to language and motor retardation, and had unstable gait, poor eye contact, stereotypical behavior and seizure of vN. Special facial features were found: oblique head deformity, eyelid drooping, flat nose, bilateral corners of the mouth sinking, lower ear position, and 2 segments of the left hand small finger. Adjuvant examination showed scoliosis, ventricular septal defect, language retardation and moderate mental retardation, and no abnormal karyotype. The whole genome SNP microarray technique showed that there was a repeat of 1 copy in Q24.21 region of chromosome 12 in patients. The size of the patient was 1.03Mb, and there was no abnormality in the area of the patient's parents. MED13L syndrome. MED13L gene point mutation, deletion or repeat mutation can lead to MED13L syndrome. Different genotypes can lead to different clinical phenotypes.
【作者单位】： 华中科技大学同济医学院附属武汉儿童医院检验科;华中科技大学同济医学院附属武汉儿童医院临床研究中心;华中科技大学同济医学院附属武汉儿童医院康复科;
【基金】：湖北省卫生计生科研基金(项目编号WJ2015MB247)
【分类号】：R440;R725.9
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本文编号：1921594