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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.
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
Trisomy 13 (Patau syndrome), trisomy 18 (Edwards syndrome) Triploid syndrome , also called triploidy , is a chromosomal disorder in which a fetus has three copies of every chromosome instead of the normal two.
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 ]
Proboscis in Patau syndrome. Cyclopia (a single median eye) is associated with arrhinia (absence of the nose) and proboscis formation above the eye.. In teratology, a proboscis is a blind-ended, tube-like structure, commonly located in the middle of the face.
In rare cases this translocation results in Down syndrome and Patau syndrome. [2] Robertsonian translocations result in a reduction in the number of chromosomes. A Robertsonian evolutionary fusion, which may have occurred in the common ancestor of humans and other great apes, is the reason humans have 46 chromosomes while all other primates ...
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.