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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.
Normal human Karyotype. 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 ...
Sofía Isabel Jirau González (born March 26, 1997) is a Puerto Rican model with Down syndrome. Personal life. Jirau was born in Puerto Rico to Frankie Jirau and Mimi González. She is the second eldest of four children.
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with developmental delays, characteristic physical features, and mild to moderate intellectual disability . [2]
Every year on March 21, World Down Syndrome Day is observed to create awareness about Down syndrome. It is a condition in which a child is born with an extra 21st chromosome. Activities and commemorations. A common activity is wearing colorful or mismatched socks, to show support for people with Down syndrome.
1 in 20,000 to 1 in 7,500 [4] Williams syndrome ( WS ), also Williams–Beuren syndrome ( WBS ), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with ...
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. 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.
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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. In the film, he plays the role of a university graduate with Down syndrome, which is quite similar to his real life.
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.