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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.
Normal human Karyotype. 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 ...
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.
DeSanto-Shinawi ( DESSH) syndrome is a rare genetic disorder caused by genetic variations (mutations) in a gene called WW Domain-Containing Adaptor with Coiled-coil Region (the WAC gene). [1] The condition was first described in 2015 in six individuals. [2] The prevalence of DESSH syndrome is unknown at this time, but 25 individuals have been ...
Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [1] It is typically associated with developmental delays, characteristic physical features, and mild to moderate intellectual disability. [2]
The National Down Syndrome Society ( NDSS) is an American organization that offers support to people with Down syndrome, their families, friends, teachers, and coworkers, and educates the general public about Down syndrome. The mission of the NDSS is to be the leading human rights organization for all individuals with Down syndrome.
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.
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.
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 ...