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Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.
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.
The most common aneuploidy that infants can survive with is trisomy 21, which is found in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in 10,000 births. 10% of infants with trisomy 18 or 13 reach 1 year of age. [9]
Klaus Patau (30 September 1908 – 30 November 1975; born Klaus Pätau; pronounced [ˈklaʊs ˈpɛtaʊ]) was a German-born American geneticist. He received his PhD from the University of Berlin in 1936, worked from 1938 to 1939 in London, and then returned to Germany, where he worked at the Kaiser Wilhelm Institute for Biology until 1947.
Patau may refer to: Klaus Patau , a geneticist who first reported Patau chromosome associated with Patau syndrome Patau chromosome , also known as Chromosome 13, associated with Patau syndrome
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It is often a result of fetal alcohol syndrome (FAS), caused by large alcohol intake in the first month of pregnancy. [citation needed] It can be associated with trisomy 13, which is also known as Patau syndrome, [3] as well as hereditary neuralgic amyotrophy. [4] It can also be associated with fragile X syndrome and Prader–Willi syndrome.