Summary
A family in which the proband showed phenotypic signs of both the Turner and Down syndromes was studied cytogenetically and with restriction fragment length polymorphisms. The proband's karyotype was 46,X,+21, showing double aneuploidy without any signs of mosaicism. The single X and one chromosome 21 were of paternal origin while two chromosomes 21 were of maternal origin. The nondisjunction of chromosome 21 took place in maternal meiosis II. If it is assumed that the absence of mosaicism renders postzygotic mitotic loss of the X chromosome unlikely, then the X chromosome would have been lost in maternal meiosis I or II. Recombination had occurred between the nondisjoined chromosomes 21. We conclude that double nondisjunction took place in one parent and that asynapsis was not a prerequisite for the autosomal nondisjunction.
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Ikonen, R.S., Lindlöf, M., Janas, M.O. et al. Coincident maternal meiotic nondisjunction of chromosomes X and 21 without evidence of autosomal aysnapsis. Hum Genet 83, 235–238 (1989). https://doi.org/10.1007/BF00285163
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DOI: https://doi.org/10.1007/BF00285163