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Down syndrome is the most common chromosomal abnormality, [25] occurring in about 1 in 1,000 babies born worldwide, [1] and one in 700 in the US. [17] In 2015, there were 5.4 million people with Down syndrome globally, of whom 27,000 died, down from 43,000 deaths in 1990.
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 ...
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.
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.
This is a list of people with Down syndrome, a condition also known as Down's syndrome or trisomy 21. 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 ...
Personal life. Jirau was born in Puerto Rico to Frankie Jirau and Mimi González. She is the second eldest of four children. [2][3][4][5] On April 29, 2020, on an Instagram Live, Jirau revealed she was in a relationship with Christopher González, a chef with Down Syndrome who owns a food truck. Both met at her job.
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 with ...
Down syndrome (DS), caused by trisomy 21, is the most common birth defect associated with intellectual disability. DSCAM plays a crucial role in the development of DS: it is expressed in the developing nervous system, with the highest level of expression occurring in the fetal brain. When over-expressed in the developing fetal central nervous ...