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Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
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 ...
Down syndrome is a genetic disorder that often results in distinct physical differences and intellectual disability. According to the Centers for Disease Control, each year about 6,000 babies are ...
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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 ...
Here are amazing individuals with Down syndrome who are breaking the barriers of disability stigmas. Edward Barbanell. A comedian who has been in hit productions such as Workaholics and The Ringer ...
Irene Ayako Uchida. Irene Ayako Uchida, OC (April 8, 1917 – July 30, 2013) was a Canadian scientist and Down syndrome researcher. [1] Born in Vancouver, she initially studied English literature at the University of British Columbia. As a child and teenager she played violin and piano, and was described as "outgoing" and "social."