Matsunaga E, Tonomura A, Oishi H, Kikuchi Y
Hum Genet. 1978 Feb 16;40(3):259-68. doi: 10.1007/BF00272186.
Paternal age distribution for 1279 cases of Down's syndrome born in 1952--1968 was compared with the corresponding distribution for the general population, corrected for the maternal age as well as for the year of birth of the patients. Although there was no difference in the mean paternal age, the two distributions differed significantly, largely due to the excess of fathers aged 55 years and over and to the deficit of those aged 40--44 years in the patients born to mothers aged 30 years and over. The overall pattern of the relative incidence of Down's syndrome with advancing paternal age, with maternal age controlled, seems consistent with the hypothesis proposed by Stene et al. (1977). It increased from 0.8 for fathers aged 20--24 years slowly up to 1.2 for those aged 45--49 years, though with an intermediate drop to 0.8 at the age of 40--44 years, and then sharply to 2.4 for those aged 55 years and over. This rising pattern of the relative incidence with paternal age was essentially the same for the patients born in 1952--1960 and for those born in 1961--1968, although the slope was less steep in the latter than in the former group.
将1952年至1968年出生的1279例唐氏综合征病例的父亲年龄分布与一般人群的相应分布进行了比较，并根据母亲年龄以及患者的出生年份进行了校正。尽管父亲的平均年龄没有差异，但这两种分布存在显著差异，主要是由于55岁及以上父亲的数量过多，以及30岁及以上母亲所生患者中40至44岁父亲的数量不足。在控制母亲年龄的情况下，唐氏综合征相对发病率随父亲年龄增长的总体模式似乎与斯特内等人（1977年）提出的假设一致。从20至24岁父亲的0.8缓慢上升至45至49岁父亲的1.2，不过在40至44岁时中间有一个下降至0.8，然后对于55岁及以上的父亲急剧上升至2.4。1952年至1960年出生的患者和1961年至1968年出生的患者，相对发病率随父亲年龄增长的这种上升模式基本相同，尽管后一组的斜率比前一组更平缓。
