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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.
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).
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.
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.
The medical term for toasted skin syndrome is erythema ab igne, which is derived from Latin, and means "redness from fire." "Early phases appear as lacy or net-like (reticulated) ...
Newsweek’s profile of a former death row inmate and convicted murderer, who is transitioning into a woman, shocked readers who called it "puff piece.". Steven Joseph Hayes was previously ...
WASHINGTON (Reuters) -A massive winter storm moving across the United States will not keep the U.S. Congress from meeting on Monday to formally certify Republican Donald Trump's election as ...
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.