The effect of variant chromosomes on reproductive fitness in man

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Abstract
Reproductive fitness of carriers of heterochromatic variants of the human karyotype was found to be normal. The method was based on a comparison between known carriers and known non‐carriers from the same pedigree in respect of live births, generation time and survival of offspring to reproductive age. A subset of the data had been included in an earlier study in which reproductive fitness of carriers was found to be significantly reduced. Our analysis suggests that the result may have been fortuitous, since it was not supported by the additional data. There was no evidence of heterogeneity between carriers of different types of variant or of different sex. There were indications of increased fetal losses to carriers, but the number of spontaneous abortions was insufficient to produce a detectable effect on gross reproductive fitness.