Loesch D Z, Scott D
Department of Psychology, La Trobe University, Bundoora, Victoria, Australia.
Clin Genet. 1989 Sep;36(3):145-51. doi: 10.1111/j.1399-0004.1989.tb03180.x.
A method of estimating the likelihood ratio and the risk of an individual being affected with Martin Bell syndrome (MBS) from anthropometric measurements is described. The procedure is based on the discriminant functions (one for each sex), generated in our previous study in order to separate the individuals with MBS from the normal individuals. The procedure is illustrated by the examples of estimating the likelihood and the likelihood ratio in four individuals of either sex, belonging to MBS families, where the discriminant score value obtained from each individual is compared with the empirical (normalized) distribution of discriminant scores from the known MBS and normal subjects of a corresponding sex. The ways in which the risk of an individual being MBS is estimated in the general population or in members of the MBS families are indicated. The limitations of the discriminant diagnosis based on body measurements, as well as its particular applications in studies of the Martin-Bell syndrome, are discussed.
本文描述了一种通过人体测量来估计个体患马丁-贝尔综合征（MBS）的似然比和风险的方法。该程序基于我们之前研究中生成的判别函数（每种性别一个），以便将患有MBS的个体与正常个体区分开来。通过估计属于MBS家族的四名不同性别的个体的似然性和似然比的例子来说明该程序，其中将从每个个体获得的判别得分值与相应性别的已知MBS和正常受试者的判别得分的经验（归一化）分布进行比较。指出了在一般人群或MBS家族成员中估计个体患MBS风险的方法。讨论了基于身体测量的判别诊断的局限性及其在马丁-贝尔综合征研究中的特殊应用。
