Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of. The extra chromosome causes numerous fetal structural defects. In over 80% cases there is fresh mutation with non separation in myeosis of older mother. Find out about pataus syndrome, also known as trisomy, a serious genetic disorder. Genetic syndromes caused by chromosomal aberrations involve a recognizable pattern of multiple congenital anomalies with increased neonatal and infant mortality, making care challenging for the family, primary care practitioners, and specialists. Pdf mirror syndrome assocciated with patau syndrome. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. The best screening strategy with the lowest falsepositive rate was obtained by combining the three serum markers. Trisomy syndrome nord national organization for rare. They occur randomly during conception, when the sperm and egg combine and. Pdf patau syndrome is a congenital disorder associated with. Although they do not have signs of patau syndrome, people who carry this type of. Presentation of a clinical case of trisomy patau syndrome with exceptional. Autosomal trisomy syndromes journal of medical genetics.