Patau syndrome with mild phenotypic expression

Abstract

Patau syndrome is a genetic disorder which causes an infant to have three copies of genetic material of chromosome 13. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis. The extra genetic material disrupts the normal course of development, causing complex organ defects. Those individuals may have heart defects, polydactyly, intellectual disability, microphthalmia or anophthalmia, cleft lip, cleft palate, hypotonia, low-set ears, scalp defects, microcephaly, myelomeningocele, abnormalities of fingers, respiratory difficulcies and hypoglycemia.There is a possibility to stay alive, but most infants with the syndrome die within the first three months after birth. Case report: We report 7 months old girl with Patau syndrome. She had low-set ears, flattened nose, wider then usual area between eyebrows, cataracts, coloboma and heart defects. Genetical tests were made two times during pregnancy, but higher risk for Patau syndrome was not shown . What is more fetus was tested with ultrasound but there were not found any abnormalities either. Trisomy 13 was confirmed by examining the infant's chromosomal pattern through karyotyping. Also it is important to highlight the fact that parents were in the middle age and healthy. Patient was treated with dorzolamide and timolum, dekstrose infusion, oxygen therapy and others. After all medication infant‘s condition was stabilized.