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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
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.
On February 10, 2020, the 24 year old Puerto Rican model made her debut at New York Fashion Week, becoming one of the few models with Down syndrome to participate in this event. Her debut was covered dozens of media outlets around the world, such as Vogue Mexico, People, ¡Hola!, among others.
World Down Syndrome Day ( WDSD) is marked each year on March 21, [1] beginning in 2007. The 21st day of March (the 3rd month of the year) was selected to signify the uniqueness of the triplication ( trisomy) of the 21st chromosome which causes Down syndrome. The General Assembly of the United Nations has decided to observe it each year since 2012.
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 ...
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 250 ...
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. At the same time, they enjoy a rich social and emotional awareness. Down syndrome is the most common chromosome abnormality in humans, occurring in about one per 1000 babies born each year.
Pablo Pineda. Pablo Pineda (born August 5 1974) is a Spanish actor who received the Concha de Plata Award at the 2009 San Sebastián International Film Festival for his performance in the film Yo, también. [1] In the film, he plays the role of a university graduate with Down syndrome, which is quite similar to his real life.