Learn about the genetic disorder that causes developmental and health abnormalities due to an extra chromosome 13. Find out the pathophysiology, clinical presentation, diagnostic procedures, and management of Patau Syndrome. Patau Syndrome (Trisomy 13) Trisomy 13, or Patau syndrome, is a genetic syndrome caused by the presence of 3 copies of chromosome 13. As the 3rd most common trisomy, Patau syndrome has an incidence of 1 in 10,000 live births and is more common in women. Most cases of Patau syndrome are diagnosed prenatally by maternal screening and ultrasound. Patau syndrome, also called trisomy 13, is the least common and most severe of the viable autosomal trisomies. Median survival is fewer than 3 days. First identified as a cytogenetic syndrome in 1960, Patau syndrome is caused by an extra copy of chromosome 13, a medium-length acrocentric chromosome. Cytogenetic analysis is a necessary step in the prenatal diagnosis of Patau syndrome. Referral to a geneticist or genetic counselor is important for appropriate counseling regarding recurrence ... Patau's syndrome is a rare genetic disorder caused by having an extra copy of chromosome 13. It affects about 1 in 4,000 births and causes severe developmental problems and often death. Learn about the symptoms, causes, screening and treatment options.
