Summary
One hundred and twenty-nine embryos with polydactyly were found among 36,380 human conceptuses obtained through induced abortion during the period from 1962 to 1974, giving an overall incidence of 0.35%; this must be taken as an underestimate because the denominator includes a large number of damaged embryos. A significant increase was noted in 1971 and 1972, and some exogenous factors, most probably ascertainment bias, were suspected to be responsible. About three quarters of the present cases had preaxial polydactyly in contrast to the predominance of postaxial type in Negro and Caucasian populations. The ratio unilateral to bilateral affection was approximately 2∶1.
The mean maternal age did not differ significantly from that of the general embryonic population, indicating that chromosomal aberrations such as trisomies 13, 18 and 21 that are closely associated with maternal age may not constitute a major component as causes of Japanese polydactyly. Maternal pregnancy order had no effect upon the causation of this malformation. The case mothers were shown to have more frequent miscarriages than controls, suggesting the possible effect of some kind of maternal predisposition. No association was verified with paternal age, parental consanguinity nor with maternal medical history, including irregular menstrual cycle, and smoking and drinking habit. None of the cases was found to be familial. Argument was made that dominant inheritance is not a major cause and that complex genetic mechanisms or unknown exogenous factors may be responsible for the majority of the Japanese cases of polydactyly.
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Shiota, K., Matsunaga, E. A genetic and epidemiologic study of polydactyly in human embryos in Japan. Jap J Human Genet 23, 173–192 (1978). https://doi.org/10.1007/BF02001800
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DOI: https://doi.org/10.1007/BF02001800