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1959: Chromosome Abnormalities Identified
![Image of 3 copies of chromosome 21](https://webarchive.library.unt.edu/web/20090508183227im_/http://genome.gov/Images/Edkit/picture_1959.gif)
Professor Jerome Lejeune and his colleagues discovered that Down syndrome, first classified by J. L. H. Down in 1866, is caused by trisomy 21 – that is, having three instead of 2 copies of chromosome 21. The extra copies of the genes on chromosome 21 affect the development of the brain and body.
More Information
References:
Lejeune, J., Gautier, M., Turpin, R. Etude des chromosomes somatiques de neuf enfants mongoliens. C R Acad Sci, 248: 1721-1722. 1959. [PubMed]
Ford, C.E., Miller O.J., Polani P.E., de Almeida, J.C., Briggs, J.H. A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet, 1: 711-713. 1959. [PubMed]
Jacobs, P.A., Strong, J.A.. A case of human intersexuality having a possible XXY sex-determining mechanism. Nature, 183: 302-3.1959. [PubMed]
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Last Reviewed: April 17, 2009
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