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Down Syndrome - Clinical Features, Chromosomal Basis Of Down Syndrome, Testing For Down Syndrome

Medicine EncyclopediaGenetics in Medicine - Part 1

Down syndrome, also called trisomy 21, is the single most common genetic cause of moderate mental retardation. It occurs in about one of every eight hundred live births. It is caused by the inheritance of an extra copy of chromosome 21. The condition was named after an English physician, J. Langdon Down, who in 1866 published the first report describing patients with similar facial features and mental retardation. The chromosomal basis of Down syndrome was not determined until nearly a century later.

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