Jacobs P A, Morton N E
Hum Hered. 1977;27(1):59-72. doi: 10.1159/000152852.
A mathematical theory is derived for the distribution of heteromorphisms in trisomics and polyploids. Applied to the sparse literature, it appears that most trisomy 21 is due to first division maternal nondisjunction, although there are case reports of second division nondisjunction, both paternal and maternal. Most triploids appear to be due to dispermy or failure of the first meiotic division in the oocyte. The need for larger systematic samples is stressed. This maximum likelihood analysis gives great resolution to epidemiological studies, permitting discrimination of etiological factors acting on fathers and mothers, at different meiotic stages, and on dispermy.
推导了一个关于三体和多倍体中异型性分布的数学理论。应用于稀少的文献时，似乎大多数21三体是由于母方第一次减数分裂不分离所致，尽管有父方和母方第二次减数分裂不分离的病例报告。大多数三倍体似乎是由于双精受精或卵母细胞第一次减数分裂失败所致。强调了需要更大的系统样本。这种最大似然分析为流行病学研究提供了很高的分辨率，能够区分在不同减数分裂阶段作用于父亲和母亲的病因因素以及双精受精的病因因素。
