A congenital condition resulting from a chromosomal abnormality in which a child has three copies (trisomy) of chromosome 13. Infants with Patau’s syndrome have severe mental retardation and often numerous defects, such as myelomeningocele and cleft lip and palate, and brain deformities, such as failure of the brain to divide properly. Less than one in five survive the first year.
A genetic irregularity characterized by the presence of three copies of chromosome 13, instead of the typical two. Patau’s syndrome is an inborn condition, present from birth, leading to reduced birth weight and an array of anomalies like cleft palate or hare lip, eye abnormalities, underdeveloped jaw (micrognathia), ears positioned low, additional digits, and genital malformations. Profound internal organ deformities may also manifest, including heart issues, meningomyelocele, and exomphalos, where parts or all of the intestines protrude through the navel.
The majority of children afflicted by Patau’s syndrome do not live past the age of two, and the survivors often face challenges in learning. Occasionally, impacted children might exhibit a blend of regular and irregular cells, potentially leading to less severe variations of the syndrome.
This condition can be detected during the initial phases of pregnancy through tests like chorionic villus sampling or amniocentesis. Moreover, genetic counseling might be provided as an option.