唐氏综合征与母亲年龄：亲本来源错误认定的影响。
Down syndrome and maternal age: the effect of erroneous assignment of parental origin.
作者信息
Carothers A D
出版信息
Am J Hum Genet. 1987 Feb;40(2):147-50.
It is tempting to assume that the maternal age effect in trisomy 21 is confined to cases arising from errors of maternal gametogenesis. However, it has been suggested that this hypothesis is incompatible with the results of studies, based on the subjective assessment of chromosome polymorphisms, of the parental origin of the additional chromosome. Contrary to the hypothesis, these studies appear to indicate that the ratio of maternal to paternal errors does not depend significantly on maternal age. I show here that the hypothesis need not be rejected if the proportion of published parental assignments that are incorrect is greater than or equal to 8%, a figure regarded as realistic by some experienced cytogeneticists.
人们很容易认为，21三体综合征中的母亲年龄效应仅限于由母亲配子发生错误引起的病例。然而，有人认为，基于对染色体多态性的主观评估对额外染色体的亲本来源进行研究的结果与该假设并不相符。与该假设相反，这些研究似乎表明，母源错误与父源错误的比例并不显著依赖于母亲年龄。我在此表明，如果已发表的亲本分配中不正确的比例大于或等于8%（一些经验丰富的细胞遗传学家认为这个数字是现实的），那么该假设不一定被否定。
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