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Down syndrome. Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [ 3 ]
John Langdon Down. John Langdon Haydon Down (18 November 1828 – 7 October 1896) was a British physician best known for his description of the genetic condition now known as Down syndrome, which he originally classified in 1862. He is also noted for his work in social medicine and as a pioneer in the care of mentally disabled patients.
Genetics of Down syndrome. Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on chromosome 21, either in whole (trisomy 21) or part (such as due to translocations). The effects of the extra copy varies greatly from individual to individual, depending on the extent of the extra copy ...
The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this number varies widely. [3] At the same time, they enjoy a rich social and emotional awareness. [4] Down syndrome is the most common chromosome abnormality in humans, [3] occurring in about one per 1000 babies born each ...
Model. The Ts1Cje mouse model of Down Syndrome was developed at the University of California, San Francisco in 1997. This model has a partial triplication of MMU 16 that is smaller than the triplicated region in the Ts65Dn model. Ts1Cje triplication contains what has been identified as the Down Syndrome Critical Region, a region involved in all ...
The National Down Syndrome Society ( NDSS) is an American organization that offers support to people with Down syndrome, their families, friends, teachers, and coworkers, and educates the general public about Down syndrome. The mission of the NDSS is to be the leading human rights organization for all individuals with Down syndrome.
Down syndrome research. Research of Down syndrome–related genes is based on studying the genes located on chromosome 21. In general, this leads to an overexpression of the genes. [1][2] Understanding the genes involved may help to target medical treatment to individuals with Down syndrome. It is estimated that chromosome 21 contains 200 to ...
Carol Boys [2] Main organ. DSA Journal (twice a year) [2] Budget. £2.2 million [1] Website. www.downs-syndrome.org.uk. The Down's Syndrome Association (DSA) is a British charity which describes itself as being the only organisation in the United Kingdom that focuses solely on all aspects of living successfully with Down's syndrome. [3]