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The clinical features of Down syndrome had been described about a century ago. Even though the underlying cause-an extra copy of chromosome 21-has been recognized for more than four decades, the almost total DNA sequence of chromosome 21-some 33,546,361 base pairs-was determined only 4 lots of years ago, and also the romantic relationship of genotype to phenotype is just beginning to become understood. Down syndrome is broadly representative of aneuploid problems, or people that are caused by a deviation within the normal chromosome complement (euploidy).
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