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Down syndrome or Down's syndrome, [12] 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] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
Associate Professor Leslie Sheffield is an Australian geneticist who led the creation of the Down Syndrome screening program in Melbourne. [1] [2] He has conducted research on personalised medicine. [3] [4] [5] [6]
Downs' syndrome or non-pathological: greyish-white spots at periphery of iris Buerger's test: Leo Buerger: general medicine, surgery: peripheral artery disease: pallor of the leg upon elevation Burton line: Henry Burton: toxicology: lead poisoning: NEJM 354:e21 5/18/06: blue discolouration of the gingival border Cabot rings: Richard Cabot ...
Created Date: 8/30/2012 4:52:52 PM
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Sequenom's (SQNM) announcement Wednesday after the close regarding its Down syndrome test highlights the risks facing pharmaceutical investors and pharmaceutical companies when developing ...
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. [3] At the same time, they enjoy a rich social and emotional awareness. [4] Down syndrome is the most common chromosome abnormality in humans, [3] occurring in about one per 1000 babies born each ...
Lily breaks the mold of some people's concept of individuals with Down syndrome. She holds a job and is an important member of her community. She is able to live on her own and do everything a regular member of society can do. By inviting viewers into the details of her daily life, she proves that she is no different from anyone else.