| John Langdon Haydon Down (1828-1896) in 1866 first clinically identified the phenotype in patients, that then became known as "Down Syndrome". It was not until the next century with the development of genetic analysis that the additional 21 chromosome basis of this developmental abnormality (Trisomy 21) was identified. Note that the original paper uses historic terminology that would no longer be considered acceptable in Medicine.
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