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布腊克曼-德朗热综合征的掌指纹型分析

Metacarpophalangeal pattern profile analysis in Brachmann-de Lange syndrome.

作者信息

Butler M G, Dahir G A, Gale D D, Meaney F J

机构信息

Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232-2578.

出版信息

Am J Med Genet. 1993 Nov 15;47(7):1003-5. doi: 10.1002/ajmg.1320470713.

DOI:10.1002/ajmg.1320470713
PMID:8291512
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6054132/
Abstract

We analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann-de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome.

摘要

我们分析了19例布-德二氏综合征（BDLS）患者的掌指纹型轮廓（MCPP），并计算出了平均综合征轮廓。19例BDLS患者中有14例存在显著正相关，这表明临床具有同质性。将BDLS患者与正常个体样本进行判别分析，基于2个MCPP变量的函数得出正确分类率为100%，这可能为辅助BDLS的诊断提供一个有用的工具。为BDLS患者计算的平均纹型变异指数为1.9，表明该综合征存在手部纹型异常。

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