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Down syndrome is the most common chromosomal abnormality in humans. [9] Globally, as of 2010, Down syndrome occurs in about 1 per 1,000 births [1] and results in about 17,000 deaths. [142] More children are born with Down syndrome in countries where abortion is not allowed and in countries where pregnancy more commonly occurs at a later age. [1]
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 ...
Pablo Pineda. Pablo Pineda (born 5 August 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.
An anaphase lag of a chromosome 21 in a Down syndrome embryo leads to a fraction of euploid cells (2n cells), phenomenon described as "aneuploidy rescue". There is considerable variability in the fraction of cells with trisomy 21, both as a whole and tissue-by-tissue. This is the cause of 1–2% of the observed Down syndromes. [4]
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 ...
Any Day Now is a 2012 American drama film directed by Travis Fine, who rewrote the original screenplay that George Arthur Bloom had written 30 years previously. Alan Cumming and Garret Dillahunt star as a gay couple who assume guardianship of a teenage boy who has Down syndrome, only to find themselves at odds with the biological mother and California's family law courts.
Axenfeld–Rieger syndrome is a rare autosomal dominant [2] disorder, which affects the development of the teeth, eyes, and abdominal region. [3]Axenfeld–Rieger syndrome is part of the so-called iridocorneal or anterior segment dysgenesis syndromes, [4] which were formerly known as anterior segment cleavage syndromes, anterior chamber segmentation syndromes or mesodermal dysgenesis.