Patau Syndrome

Patau syndrome, also known as trisomy 13 or Bartholin-Patau syndrome, is the third most common trisomy after trisomy 21 (Down syndrome) and trisomy 18 (Edwards syndrome). Patau syndrome is a chromosome abnormality that results in severe physical impairments and intellectual disabilities. The syndrome, first described in 1657 by French physician Erasmus Bartholin who was unaware of its cause, was officially confirmed to be trisomy 13 in 1960, primarily by Dr. Klaus Patau. Typically, an individual has two copies of each chromosome in each cell within the body. However, in trisomy 13, three copies (hence the tri prefix) of chromosome 13 are within each cell. This chromosomal change is a random event that occurs during cell division and is not usually an inherited condition. In some ...

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