首页> 美国卫生研究院文献>Journal of Medical Genetics >Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.
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Cleft lip with or without cleft palate: identification of sporadic cases with a high level of genetic predisposition.

机译:有或没有without裂的唇裂:鉴定具有高遗传易感性的散发病例。

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摘要

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.
机译:先前的研究表明,某些双侧代表特征的不对称性可能是遗传倾向性的唇裂伴或不伴有left裂的标志,因此可能在复发风险的个体评估中具有价值,特别是对于散发病例。已经设计出一种不对称评分,可用于识别遗传易感性高的人群。逐步逻辑回归选择了9个变量,将85%的家族性left裂患者和无关的非left裂对照正确分类。对零星病例使用相同的回归方程,有26%的人属于大多数家族性患者,这表明他们具有较高的遗传易感性。

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