Patau syndrome, also known as trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 in a person’s cells. It is named after Professor Klaus Patau, one of the scientists who discovered this syndrome in 1960. This disorder is quite rare, occurring in approximately one out of every ten thousand live births.
Patau syndrome is characterized by severe physical and mental developmental delays. Individuals with this disorder often have heart defects, distinctive facial features, seizures, kidney abnormalities, poor muscle tone, and low birth weight. Other common issues include eye problems, hearing loss, and an inability to feed normally.
Patau syndrome is caused by a random error in cell division, called nondisjunction. This occurs when the chromosomes do not separate correctly during the formation of reproductive cells. As a result, the cells end up with an extra copy of chromosome 13. The causes of this error are unknown, but it may be related to the mother’s age.
Patau syndrome is a life-limiting condition, and many babies with this disorder do not survive beyond the first few months of life. Those that do survive will likely have severe physical and intellectual disabilities that will require ongoing medical and supportive care. There is no cure for Patau syndrome, but some treatments can help reduce symptoms and improve quality of life.