Patau syndrome is a chromosomal disease, the development of which is associated with the addition of the thirteenth chromosome, the so-called trisomy 13. The disease is characterized by severe congenital defects of brain development and face.
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Concept about Pataau syndrome
Patau syndrome is a chromosomal disease that is characterized by the presence of an additional thirteenth chromosome in the cells.
Trisomy (the presence of an additional chromosome) is first described by Erasmus Bartolin in 1657. Chromosomal nature of the disease revealed Dr. Claus Patau in 1960. The disease is named after him. Patau syndrome was also described for tribes from the Pacific Islands. It is believed that these cases were caused by radiation infection that appeared as a result of tests of nuclear weapons in the region.
Basic symptoms of the disease
A characteristic complication of pregnancy when entering the fetus with Pataau syndrome is a multi-way: it meets almost half of Pataau syndrome.
With Pataau syndrome, severe congenital vices are observed. Children with Patau syndrome are born with a body weight below normal (2500 g). The main manifestations of the disease:
- Moderate microcephalus (reduction of brain sizes)
- Violation of the development of various departments of the central nervous system
- Low spilled forehead
- Durable eye cracks, the distance between which is reduced
- Microftralmia (small eye size) and coloboma
- Voring cornea
- Split nose and widespread nose
- Deformed ear sinks
- cleft upper lip and neba
- Polydactilia (increase in the amount of fingers)
- Short neck
Most newborn have malformations of heart development - defects of interventricular and interpresentation partitions, transposition of vessels, etc. Observed fibrocistal changes in pancreas, added spleen, embryonic umbilical hernia. The kidneys are enlarged, have an increased prayer structure and cysts, the defects of the development of genitals are detected. For Patau syndrome, a mental development delay is characteristic.
In connection with severe congenital defects, most children with Patau syndrome die in the first weeks or months of life.
However, some patients live for several years. Moreover, in developed countries there is a tendency to increase the life expectancy of patients with Syndrome Patau up to 5 years sometimes even up to 10 years. The remaining children are alive suffer from deep idiocy.
The decisive factor in the diagnosis is a study by chromosomes. Cytogenetic research is shown in all cases, including dead children. Accurate cytogenetic diagnosis is necessary for the forecast of the health of future children.
Treatment of the disease
Modern medicine has not yet been able to correct chromosomal disorders. Complex work of a group of various specialists is constantly monitoring the health of the patient and psychological support of the family.
