通过高分辨率和分子分析检测到DiGeorge综合征中22q11的间质缺失。
Interstitial deletion of 22q11 in DiGeorge syndrome detected by high resolution and molecular analysis.
作者信息
Franke U C, Scambler P J, Löffler C, Löns P, Hanefeld F, Zoll B, Hansmann I
机构信息
Institut für Humangenetik, Universität Göttingen, Germany.
出版信息
Clin Genet. 1994 Aug;46(2):187-92. doi: 10.1111/j.1399-0004.1994.tb04222.x.
Two patients with DiGeorge syndrome (DGS), one with and one without characteristic dysmorphic facial features, were studied by high resolution banding, fluorescence in situ hybridization (FISH) and quantitative Southern blotting. In both patients, even in the one with no typical facial stigmata, a microdeletion within 22q11.2 was detected. FISH analysis, in particular, is most useful in screening for 22q11.2 segmental monosomy in patients with DGS and DGS-related features.
对两名患有迪乔治综合征（DGS）的患者进行了研究，其中一名有典型面部畸形特征，另一名没有，采用高分辨率显带、荧光原位杂交（FISH）和定量Southern印迹法。在这两名患者中，即使是没有典型面部特征的那名患者，也检测到了22q11.2区域的微缺失。特别是FISH分析，在筛查患有DGS及DGS相关特征的患者的22q11.2节段性单体方面最为有用。
Zotero 插件