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唇裂伴或不伴腭裂:具有高度遗传易感性的散发病例的识别。

Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.

作者信息

Crawford F C, Sofaer J A

出版信息

J Med Genet. 1987 Mar;24(3):163-9. doi: 10.1136/jmg.24.3.163.

Abstract

Previous studies have suggested that asymmetry for certain bilaterally represented features may be an indicator of genetic predisposition to cleft lip with or without cleft palate and may therefore be of value in the individual assessment of recurrence risk, particularly for sporadic cases. An asymmetry score has been devised that may be of use in identifying those with a high level of genetic predisposition. Stepwise logistic regression selected nine variables that together correctly classified 85% of familial cleft patients and unrelated non-cleft controls. Applying the same regression equation to sporadic cases, 26% fell into the range occupied by the majority of familial patients, suggesting that these had a high level of genetic predisposition.

摘要

先前的研究表明,某些双侧呈现特征的不对称可能是唇裂伴或不伴腭裂遗传易感性的一个指标,因此在个体复发风险评估中可能具有价值,特别是对于散发病例。已经设计出一种不对称评分,可用于识别那些具有高度遗传易感性的个体。逐步逻辑回归选择了9个变量,这些变量共同正确分类了85%的家族性腭裂患者和无关的非腭裂对照。将相同的回归方程应用于散发病例,26%的病例落在大多数家族性患者所占的范围内,这表明这些病例具有高度的遗传易感性。

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