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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 ...
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.
Pablo Pineda. 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. [1] In the film, he plays the role of a university graduate with Down syndrome, which is quite similar to his real life.
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 ...
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 ...
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 ...
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.