Origin of human trisomics and polyploids

Abstract

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.