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神经纤维瘤病的病理生理学:IX. 父亲年龄作为新突变起源的一个因素。

The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

作者信息

Riccardi V M, Dobson C E, Chakraborty R, Bontke C

出版信息

Am J Med Genet. 1984 May;18(1):169-76. doi: 10.1002/ajmg.1320180121.

Abstract

Von Recklinghausen neurofibromatosis is characterized by a relatively large proportion of apparently nonfamilial cases, presumed spontaneous mutations. This paper analyzes the distribution of paternal and maternal ages for 187 patients with von Recklinghausen disease representing the first definite case in their respective families. Mean paternal age was 32.8 years and mean maternal age was 27.4 years, both being significantly greater than for control populations (P equal to or less than .001). The advanced paternal age was not accounted for by the increase in maternal age. The methodology of controlling the general population paternal ages for each patient's birth year is described.

摘要

冯雷克林霍增氏神经纤维瘤病的特点是,相当一部分病例显然并非家族遗传,推测为自发突变。本文分析了187例冯雷克林霍增氏病患者的父母年龄分布情况,这些患者均为各自家族中的首例确诊病例。父亲的平均年龄为32.8岁,母亲的平均年龄为27.4岁,两者均显著高于对照组人群(P≤0.001)。父亲年龄偏大并非由母亲年龄增加所致。文中描述了根据每位患者的出生年份来控制总体人群父亲年龄的方法。

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