17.3 Overall Incidence of Human Chromosome Mutations

Chromosome mutations arise surprisingly frequently in human sexual reproduction, showing that the relevant cellular processes are prone to a high level of error. Figure 17-37 shows the estimated distribution of chromosome mutations among human conceptions that develop sufficiently to implant in the uterus. Of the estimated 15 percent of conceptions that abort spontaneously (pregnancies that terminate naturally), fully half show chromosomal abnormalities. Some medical geneticists believe that even this high level is an underestimate because many cases are never detected. Among live births, 0.6 percent have chromosomal abnormalities, resulting from both aneuploidy and chromosomal rearrangements.

Figure 17-37: The fates of a million implanted human zygotes
Figure 17-37: The proportion of chromosomal mutations is much higher in spontaneous abortions.
[Data from K. Sankaranarayanan, Mutat. Res. 61, 1979, 249–257.]

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