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Down syndrome, congenital disorder caused by the presence in the human genome of extra genetic material from chromosome 21. The physical features of Down syndrome were first described in 1866 by British physician John Langdon Down. Learn more about the types, symptoms, and diagnosis of Down syndrome. Down syndrome (DS), also called Trisomy 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. Down syndrome in hindi डाउन सिंड्रोम एक आनुवांशिक बीमारी है जिसमें बच्चे का जन्म 21 क्रोमोसोम की एक अतिरिक्त कॉपी के साथ होता है। जानिए डाउन सिंड्रोम के लक्षण, कारण, और इलाज के बारे में। In Down syndrome, there is an additional copy of chromosome 21, resulting in three copies instead of the usual two copies. Down syndrome is a genetic condition caused when an unusual cell division results in an extra full or partial copy of chromosome 21.