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The disease is named in Patau's honor. In England and Wales during 2008–09, there were 172 diagnoses of Patau syndrome (trisomy 13), with 91% of diagnoses made prenatally. There were 111 elective abortions , 14 stillbirth / miscarriage /fetal deaths, 30 outcomes unknown, and 17 live births.
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.
Klaus Patau and Eeva Therman reported another two cases shortly thereafter. [25] They identified the extra chromosome as being part of what Patau's lab called "group E", containing chromosomes 16, 17, and 18, but were unable to determine which chromosome was responsible at the time. Analyzing 5 more cases, they were able to determine that the ...
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.
Although many children with holoprosencephaly have normal chromosomes, specific chromosomal abnormalities have been identified in some patients (trisomy of chromosome 13, also known as Patau syndrome). There is evidence that in some families, HPE is inherited (autosomal dominant as well as autosomal or X-linked recessive inheritance).
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.
Down syndrome, a common chromosomal disease, is caused by trisomy of chromosome 21. Patau syndrome is caused by trisomy of chromosome 13. Trisomy 9 , believed to be the 4th most common trisomy, has many long lived affected individuals but only in a form other than a full trisomy, such as trisomy 9p syndrome or mosaic trisomy 9.
Patau may refer to: Klaus Patau, a geneticist who first reported Patau chromosome associated with Patau syndrome; Patau chromosome, also known as Chromosome 13 ...