Patau syndrome:

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 ... Trisomy 13 was first described as the cause of a distinct clinical syndrome in 1960 by Dr. Patau et al. The clinical syndrome was initially characterized as "cerebral defects, apparent anophthalmia, cleft palate, hare lip, simian creases, trigger thumbs, polydactyly, and capillary hemangiomata." 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. Trisomy 13 is a chromosome condition that causes severe learning disability and distinctive physical features. It is caused by having an extra copy of chromosome 13 and can be inherited or occur randomly.