Hook E B, Regal R R
Am J Hum Genet. 1984 Mar;36(2):413-21.
If there is a paternal-age effect for 47, +21, it would appear most likely to be present primarily, if not exclusively, in cases in which the extra chromosome is of paternal origin. To search for such an effect, data were reviewed from seven series reporting at least four cases of 47, +21 of paternal origin. The mean of the paternal age-maternal-age difference of such cases (dp) in each series was compared with the mean of the paternal-age differences of cases in the same series that were of maternal origin (dm). If the difference between these (dp - dm or delta) is greater than zero, then this would imply a positive paternal-age effect among cases of paternal origin, at least compared to those of maternal origin. In the seven series, the values of delta ranged from -2.2 years to +3.4 years, and there was no evidence in these comparisons for any consistent trend. A second analysis controlled for any effect of maternal-age variation upon this difference. Each case of paternal origin was matched with a case of maternal origin in the same series that was of the same maternal age. Of 60 cases of paternal origin, exact matches were found for 38. In these 38, the mean value of the difference in parental ages, dp - dm or delta, was negative, about -1.1 (+/- 5.1 years). The difference was highest for the nine cases of paternal origin in which the extra chromosome resulted from presumptive second-division non-disjunction, -1.8 (+/- 3.8 years).(ABSTRACT TRUNCATED AT 250 WORDS)
如果47,+21存在父亲年龄效应,那么这种效应很可能主要(如果不是唯一的话)出现在额外染色体来自父亲的病例中。为了寻找这种效应,我们回顾了七个系列的数据,这些系列报告了至少四例额外染色体来自父亲的47,+21病例。将每个系列中此类病例(dp)的父亲年龄与母亲年龄之差的平均值,与同一系列中额外染色体来自母亲的病例(dm)的父亲年龄之差的平均值进行比较。如果二者之差(dp - dm或delta)大于零,那么这意味着在额外染色体来自父亲的病例中存在正向的父亲年龄效应,至少相对于来自母亲的病例是这样。在这七个系列中,delta值的范围从-2.2岁到+3.4岁,在这些比较中没有证据表明存在任何一致的趋势。第二项分析控制了母亲年龄变化对这种差异的任何影响。每个额外染色体来自父亲的病例都与同一系列中母亲年龄相同的额外染色体来自母亲的病例进行匹配。在60例额外染色体来自父亲的病例中,找到了38例完全匹配的病例。在这38例中,父母年龄差dp - dm或delta的平均值为负,约为-1.1(±5.1岁)。在九例额外染色体来自父亲且额外染色体推定由第二次分裂不分离导致的病例中,差异最大,为-1.8(±3.8岁)。(摘要截选至250词)