本文選題：MEDL綜合征 + MEDL基因��； 參考：《中國當(dāng)代兒科雜志》2017年10期

【摘要】：患者,男,4歲2個(gè)月,因語言、運(yùn)動發(fā)育落后1年余就診,并有步態(tài)不穩(wěn)、眼神交流差、刻板行為及癲vN發(fā)作。查體發(fā)現(xiàn)面容特殊:斜頭畸形、眼瞼下垂、鼻梁扁平、兩側(cè)嘴角下沉、耳位較低等,以及左手小手指2節(jié)。輔助檢查提示脊柱側(cè)彎、室間隔缺損、語言發(fā)育遲緩和中度智力障礙,染色體核型無異常,全基因組SNP芯片技術(shù)檢測發(fā)現(xiàn)患者12號染色體q24.21區(qū)域重復(fù)1個(gè)拷貝、大小為1.03Mb,患者父母該區(qū)域未見異常。確診為MED13L綜合征。MED13L基因點(diǎn)突變、缺失或重復(fù)突變均可導(dǎo)致MED13L綜合征,不同的基因型可導(dǎo)致不同的臨床表型。SNP技術(shù)可協(xié)助確診。
[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.
【作者單位】： 華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬武漢兒童醫(yī)院檢驗(yàn)科;華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬武漢兒童醫(yī)院臨床研究中心;華中科技大學(xué)同濟(jì)醫(yī)學(xué)院附屬武漢兒童醫(yī)院康復(fù)科;
【基金】：湖北省衛(wèi)生計(jì)生科研基金(項(xiàng)目編號WJ2015MB247)
【分類號】：R440;R725.9
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本文編號：1921594