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Trisomy 18, also known as Edwards syndrome, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. [3] Many parts of the body are affected. [ 3 ] Babies are often born small and have heart defects . [ 3 ]
Triploid syndrome, also called triploidy, is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two. If this occurs in only some cells, it is called mosaic triploidy and is less severe. Most embryos with triploidy miscarry early in development.
John Hilton Edwards (26 March 1928 – 11 October 2007) was a British medical geneticist. Edwards reported the first description of a syndrome of multiple congenital malformations associated the presence of an extra chromosome. The extra chromosome belonged to the E group of chromosomes which consisted of chromosomes 16, 17 and 18.
Edwards syndrome causes structural heart defects, intellectual difficulties and abnormal brain development. Spina bifida may result in paralysis, scoliosis and meningitis.
This page was last edited on 28 April 2023, at 21:46 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may ...
Turner syndrome results from a single X chromosome (45,X or 45,X0). Klinefelter syndrome, the most common male chromosomal disease, otherwise known as 47,XXY, is caused by an extra X chromosome. Edwards syndrome is caused by trisomy (three copies) of chromosome 18. Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21.
Trisomy 8 (Warkany syndrome 2) Of these, Trisomy 21 and Trisomy 18 are the most common. In rare cases, a fetus with Trisomy 13 can survive, giving rise to Patau syndrome. Autosomal trisomy can be associated with birth defects, intellectual disability and shortened life. Trisomy of sex chromosomes can also occur and include: [4] XXX (Triple X ...
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