Albright S G, Hook E B
J Med Genet. 1980 Aug;17(4):273-6. doi: 10.1136/jmg.17.4.273.
The proportions of Down's syndrome livebirths associated with a Robertsonian translocation inherited from a carrier parent were estimated from data in the New York State Chromosome Registry and in two previous publications. Indirect estimates were made in each 5-year maternal age interval; these were derived from mutation rates for these translocations and maternal age specific prevalence rates in livebirths. The proportions diminished steadily with increasing maternal age. The ranges for the seven maternal age groups from under 20 to 45 to 49 were: 1.1 to 2.8%, 1.0 to 2.7%, 0.7 to 1.8%, 0.5 to 1.3%, 0.2 to 0.4%, 0.05 to 0.1%, and 0.02 to 0.04%. Direct estimates from the observed data could only be attempted for two age groups, women under 30 and those 30 or more. For those under 30 the range in proportions was 0.9 to 1.9% and for those 30 and over, 0.2 to 0.4%. In general the lowest proportions at any age were derived from New York State data and the highest from Japanese data.
根据纽约州染色体登记处的数据以及之前两篇出版物中的数据，估算了从携带罗伯逊易位的亲代遗传而来的唐氏综合征活产儿的比例。在每5岁的母亲年龄间隔内进行了间接估计；这些估计值来自这些易位的突变率和活产儿中母亲年龄特异性患病率。随着母亲年龄的增加，这些比例稳步下降。20岁以下至45岁至49岁的七个母亲年龄组的比例范围分别为：1.1%至2.8%、1.0%至2.7%、0.7%至1.8%、0.5%至1.3%、0.2%至0.4%、0.05%至0.1%以及0.02%至0.04%。仅对两个年龄组尝试根据观察数据进行直接估计，即30岁以下的女性和30岁及以上的女性。对于30岁以下的女性，比例范围为0.9%至1.9%；对于30岁及以上的女性，比例范围为0.2%至0.4%。一般来说，在任何年龄，最低比例来自纽约州的数据，最高比例来自日本的数据。
