Metacarpophalangeal pattern profile analysis in fragile X syndrome.
Metacarpophalangeal pattern profile analysis in fragile X syndrome.
复制标题
脆性 X 综合征的掌指模式轮廓分析。
DOI：
10.1002/ajmg.1320310406
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发表时间：
1988
期刊：
影响因子：
--
通讯作者：
Carpenter,NJ
中科院分区：
文献类型：
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作者：
Butler,MG;Fletcher,M;Gale,DD;Meaney,FJ;McLeod,DR;Fagan,J;Carpenter,NJ
我们分析了来自 16 个患有脆性 X-fra (X) 或马丁-贝尔综合征家族的 18 名男性个体的掌指模式谱 (MCPP)，并计算了平均综合征谱。 18 名 fra (X) 综合征患者中有 14 名具有显着的正相关性，表明临床同质性。基于 3 个 MCPP 变量的函数，对 fra (X) 综合征个体与正常个体样本进行对比分析，产生了 88% 的正确分类率，这可能为筛查 fra (X) 综合征个体提供有用的工具。对具有 Sotos 序列的个体和具有 fra (X) 综合征的个体的判别和相关分析没有发现 MCPP 的相似性。因此，我们对患者Sotos序列和fra（X）染色体表达的研究中没有MCPP证据。
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.