Effect of maternal age on autosomal trisomies.

The effect of maternal age on the genesis of trisomy was studied by comparing data from 362 trisomic and 790 chromosomally normal spontaneous abortions. As a group the trisomies were associated with a substantial increase in maternal age but there were considerable differences in the magnitude of the effect for different trisomies. The effect of increasing maternal age was most pronounced for trisomies involving the small chromosomes, both acrocentric and non-acrocentric. However, trisomy 16 was conspicuously different from trisomies for all the other small chromosomes, both in the reduced importance of increased maternal age and in the high frequency with which it occurred. The effect of increasing maternal age on trisomies for chromosomes in groups A, B and C was less clear than that for the small chromosomes. However, the evidence suggested that trisomy for these chromosomes was associated with a moderate increase in maternal age. It was suggested that the maternal age-dependent trisomies might result from precocious disjunction of the bivalents and random segregation of the resulting univalents, a process which would affect chromosomes with the fewest number of chiasmata and which might be more prevalent if oocytes of older women. It was further suggested that true non-disjunction, that is, the failure of bivalents to separate at anaphase, might also result in the production of trisomies. This process might be independent of, or only slightly influenced by, increasing maternal age but be affected by the presence of large blocks of heterochromatin.