Butler M G, Fletcher M, Gale D D, Meaney F J, McLeod D R, Fagan J, Carpenter N J
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232.
Am J Med Genet. 1988 Dec;31(4):767-73. doi: 10.1002/ajmg.1320310406.
We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X--fra (X), or Martin-Bell--syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression.
我们分析了来自16个患有脆性X染色体综合征（fra(X)）或马丁-贝尔综合征的家庭的18名男性个体的掌指模式轮廓（MCPP），并计算出了平均综合征轮廓。18名fra(X)综合征个体中有14名存在显著的正相关，这表明临床同质性。将fra(X)综合征个体与正常个体样本进行判别分析，基于3个MCPP变量的函数得出正确分类率为88%，这可能为筛查fra(X)综合征个体提供一个有用的工具。对患有索托斯序列的个体和患有fra(X)综合征的个体进行判别和相关性分析，未发现MCPP相似性。因此，在我们对患有索托斯序列和fra(X)染色体表达的患者的研究中，没有MCPP证据。
