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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.
List of people with Down syndrome. American actor and singer Chris Burke. British actor Tommy Jessop (right) with his brother William. Spanish actor Pablo Pineda, the first European with Down syndrome to complete a university degree. British actress Paula Sage receiving her BAFTA award with Brian Cox.
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 ...
Pablo Pineda. Pablo Pineda (born 5 August 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.
Psychiatry. Ulysses syndrome (immigrant syndrome of chronic and multiple stress) is an atypical set of depressive, anxious, dissociative, and somatoform symptoms that results from being exposed to extreme levels of stress unique to the process of modern migration. [1] Rather than a mental disorder, this syndrome is a natural reaction to toxic ...
Medical genetics. Named after. Donovan James McCune. Fuller Albright. McCune–Albright syndrome is a complex genetic disorder affecting the bone, skin and endocrine systems. It is a mosaic disease arising from somatic activating mutations in GNAS, which encodes the alpha-subunit of the G s heterotrimeric G protein. [1]
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females. [4] Symptoms include impairments in language and coordination, and repetitive movements. [4]