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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.
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.
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).
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 ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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.
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.