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Introduction Down syndrome is a chromosomal abnormality It is the most frequent form of mental retardation and is characterised by well-defined distinctive phenotypic features and natural history An error in cell development results in forty-seven chromosomes rather than the usual forty-six There are three major types of Down syndrome About ninety-five percent of individuals with Down syndrome have Trisomy 21 There is also Translocation and Mosaicism Down syndrome can also be referred to as Mongolism the condition is named for John Langdon Down Down was the superintendent of an asylum for children with mental retardation in Surrey England when he made the first distinction between children who were cretins and what he referred to as Mongoloids Down based this unfortunate name on his notion that these children looked like people from Mongolia who were thought then to have an arrested development This ethnic insult came under fire in the 1960s from Asian genetic researchers and the term was dropped from scientific use Instead the condition became Downs syndrome In the 1970s an American revision of scientific terms changed it simply to Down syndrome while it still is called Downs in Europe In the first part of the twentieth century there was much speculation of the cause of Down syndrome The first people to speculate that it might be due to chromosomal abnormalities were Waardenberg and Bleyer in the 1930s But it wasnt until 1959 that Jerome Lejeune and Patricia Jacobs working independently first determined the cause to be trisomy of the 21st chromosome Cases of Down syndrome due to translocation and mosaicism were described over the next three years The estimated incidence of Down syndrome is between 1 in 1000 to 1 in 1100 live births Each year approximately 3000 to 5000 children are born with this chromosome disorder It is believed there are about 250000 families in the United States who are affected by Down syndrome Mode of Inheritance Although many
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