Summary
The existence of a rare autosomal gene which in the homozygous state would cause mitotic nondisjunction in the Down zygote has been hypothesized in the past by Alfi et al. (1980). This hypothesis can be supported or contradicted by the study of the frequency of consanguineous marriages among parents of affected children. Our study on 242 children affected with Down syndrome does not show any increase in the frequency of consanguineous marriages among their parents with respect to the general population, and therefore does not support the hypothesis of an autosomal gene controlling mitotic nondisjunction. Our data do not show any increase in the frequency of consanguineaous marriages even among paternal and maternal grandparents of the affected children, thus not supporting the other possible explanation of an autosomal recessive condition in one of the patient's parents which would cause meiotic nondisjunction.
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Devoto, M., Prosperi, L., Bricarelli, F.D. et al. Frequency of consanguineous marriages among parents and grandparents of Down patients. Hum Genet 70, 256–258 (1985). https://doi.org/10.1007/BF00273452
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DOI: https://doi.org/10.1007/BF00273452