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Down syndrome is the most common chromosomal abnormality, [25] occurring in about 1 in 1,000 babies born worldwide, [1] and one in 700 in the US. [17] In 2015, there were 5.4 million people with Down syndrome globally, of whom 27,000 died, down from 43,000 deaths in 1990.
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 ...
This is a list of people with Down syndrome, a condition also known as Down's syndrome or trisomy 21. Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [1] It is typically associated with developmental delays, characteristic physical features, and mild to moderate intellectual disability ...
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 genes. [3]
Pierre Robin sequence [a] (/ p j ɛər r ɔː ˈ b æ̃ /; [3] abbreviated PRS) is a congenital defect observed in humans which is characterized by facial abnormalities.The three main features are micrognathia (abnormally small mandible), which causes glossoptosis (downwardly displaced or retracted tongue), which in turn causes breathing problems due to obstruction of the upper airway.
375. Budget. $2,000,000+. Website. www.ndss.org. 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 ...
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.