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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. [3] It is usually associated with developmental delays, mild to moderate intellectual disability, and characteristic physical features. [1] [12] There are three types of Down syndrome, the ...
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.
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 250 ...
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.
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. At the same time, they enjoy a rich social and emotional awareness. Down syndrome is the most common chromosome abnormality in humans, occurring in about one per 1000 babies born each year.
Schinzel–Giedion syndrome. Schinzel–Giedion syndrome ( SGS) is a congenital neurodegenerative terminal syndrome. It was first described in 1978 by Albert Schinzel (1944–) and Andreas Giedion (1925–) [2] [3] as a syndrome with severe midface retraction, skull anomalies, renal anomalies ( hydronephrosis) and other anomalies.
Perceived baseline versus historical baseline of an organism. A shifting baseline (also known as a sliding baseline) is a type of change to how a system is measured, usually against previous reference points (baselines), which themselves may represent significant changes from an even earlier state of the system.
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, [1] mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low ...