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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.
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.
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 ...
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.
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 ...
Medical genetics. Birt–Hogg–Dubé syndrome ( BHD ), also Hornstein–Birt–Hogg–Dubé syndrome, Hornstein–Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons [1] is a human, adult onset, autosomal dominant genetic disorder caused by a mutation in the folliculin ( FLCN) gene. It can cause susceptibility to ...
Mongolian idiocy. The obsolete medical terms Mongolian idiocy and Mongolism referred to a specific type of mental deficiency, associated with the genetic disorder now known as Down syndrome. The obsolete term for a person with this syndrome was Mongolian idiot . In the 21st century, these terms are no longer used as medical terminology, deemed ...
Seckel syndrome, or microcephalic primordial dwarfism (also known as bird-headed dwarfism, Harper's syndrome, Virchow–Seckel dwarfism and bird-headed dwarf of Seckel [1]) is an extremely rare congenital nanosomic disorder. Inheritance is autosomal recessive. [2] It is characterized by intrauterine growth restriction and postnatal dwarfism ...
Downregulation and upregulation. In biochemistry, in the biological context of organisms ' regulation of gene expression and production of gene products, downregulation is the process by which a cell decreases the production and quantities of its cellular components, such as RNA and proteins, in response to an external stimulus.