13号染色体间质性缺失：预后与成人表型
Interstitial deletion of chromosome 13: prognosis and adult phenotype.
作者信息
Dean J C, Simpson S, Couzin D A, Stephen G S
机构信息
Department of Molecular and Cell Biology, University of Aberdeen, Medical School.
出版信息
J Med Genet. 1991 Aug;28(8):533-5. doi: 10.1136/jmg.28.8.533.
A de novo interstitial deletion of chromosome 13 (46,XY,del(13)(pter----q14.3::q22.3----qter] is described in a 22 year old man with severe mental retardation, poor language development, low set ears, hypertelorism, broad nasal bridge, short hands and fingers, and a history of swallowing disorder in childhood with subsequent dyspepsia. The dysmorphic features did not become evident until later childhood, supporting the view that karyotyping should be performed routinely in all children with developmental delay.
一名22岁男性被发现有13号染色体的新生间质性缺失（46,XY,del(13)(pter----q14.3::q22.3----qter]），该患者存在严重智力障碍、语言发育迟缓、耳朵低位、眼距过宽、鼻梁宽、手和手指短小，并有童年吞咽障碍及随后消化不良的病史。这些畸形特征直到童年后期才变得明显，这支持了应对所有发育迟缓儿童常规进行核型分析的观点。
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