Abstract
IT is not widely known, and should be of historical interest, that in 1932 P. J. Waardenburg1 suggested, in a monograph on the human eye, that Down's syndrome resulted from a chromosomal aberration due to non-disjunction. This was 5 yr after the first report of a chromosomal aberration in a mammal2. In 1952, Mittwoch3 reported studying the meiotic chromosomes of a mongoloid patient and judged them to be normal. Waardenburg's suggestion was rarely cited, and the eventual discovery of trisomy–21 in 1959 (ref. 4) was generally received with surprise.
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References
Waardenburg, P. J., Das Menschliche Auge und seine Erbanlagen (Martinus, Nijhoff, Den Haag, 1932).
Painter, T. S., Genetics, Princeton, 12, 379–392 (1927).
Mittwoch, U., Ann. Eugen., 17, 37 (1952).
Lejeune, J., Gautier, M., and Turpin, R., C. r. hebd. Séanc. Acad. Sci., Paris, 248, 1721–1722 (1959).
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ALLEN, G. Aetiology of Down's syndrome inferred by Waardenburg in 1932. Nature 250, 436–437 (1974). https://doi.org/10.1038/250436a0
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DOI: https://doi.org/10.1038/250436a0
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