Patau Syndrome

Patau Syndrome is a serious chromosomal disorder that occurs when a person's somatic cells have three chromosomes No. 13 instead of the usual two. This genetic disorder is rare and most often occurs by chance.

Chromosomes contain genes responsible for inheriting various traits from parents. However, when a violation occurs in the number of chromosomes, it can lead to serious problems in the development of the body. People with Patau syndrome typically suffer from mental retardation and also have various defects of the heart, kidneys, and skull.

According to statistics, Patau syndrome occurs in one child in 5-10 thousand newborns. Most people who are born with this syndrome have a very low survival rate and do not live beyond the first few months of life. However, some people with Patau syndrome may survive into adolescence and even adulthood, but this is extremely rare.

The main symptoms of Patau syndrome are:

1. Mental retardation;
2. Microcephaly (underdevelopment of the brain);
3. Eye defects such as cataracts or double pupils;
4. Various defects of the heart and blood vessels;
5. Various kidney and bladder defects;
6. Rupture of the lip and/or palate;
7. Polydactyly (excessive number of fingers or toes);
8. Underdevelopment of fingers or toes.

Patau syndrome is a chromosomal disorder that occurs randomly and is not usually inherited from parents. Diagnosis of this syndrome can be made during pregnancy using amniocentesis or human chorionic biopsy. However, it is not always possible to detect this syndrome before the baby is born.

Treatment of Patau syndrome is aimed at relieving symptoms and improving the patient's quality of life. Treatment may include surgery to correct defects in the heart or other organs, as well as therapy to improve mental development.

In conclusion, Patau syndrome is a serious chromosomal disorder that results in mental retardation and various organ development defects. The survival rate of patients with this syndrome is very low, and treatment is aimed at relieving symptoms and improving the patient's quality of life. Parents who are at risk of having a child with Patau syndrome can consult with a geneticist to discuss options for preventing this chromosomal disorder. It is important to remember that Patau syndrome is not something that can be controlled or prevented, and that patients with this syndrome require special care and support from their loved ones and medical staff.

Content:

Patau syndrome is a disease caused by a genetic mutation that causes the body's cells to have three copies of chromosome number 13 instead of two complete chromosomes. This congenital disorder causes delays in mental and physical development in humans, and can also lead to various defects in the development of the brain, heart and kidneys. The survival rate of people with Patau syndrome is extremely low because their bodies simply cannot function properly. But many such people are lucky enough to live thanks to advances in medicine and scientific research, which are leading to new methods of treating and preventing the disease. What exactly causes Patau syndrome is still unknown, but scientists hope to determine the causes and find ways to prevent it.

How does the disease develop and how is it treated?

The causes of Patau syndrome vary, so some people may inherit the disease automatically, while others may inherit it accidentally. Today, the exact mechanism responsible for the development of the syndrome, both in an ordinary person and during fetal development, is unknown. Such variations are associated with incorrectly arranged chromosomes or incorrect gene exchange in the parents. Children born with Patown syndrome are more resilient than adults with the same disease. If you remember, if the chromosome is correct, the body develops and functions correctly. Every child is at risk for mental retardation and most often occurs when the egg or sperm contains abnormal chromosomes. In the case of Patun syndrome, instead of one normal chromosome, one of the paired chromosomes has two. But even this can only happen due to a spontaneous mutation of one of the genes.

Diagnosis of the syndrome occurs between 12 and 28 weeks of pregnancy. When a woman enters a geneticist's office, her blood cells (umbilical cord blood or venous blood) are examined and the monitor shows the presence of chromosome three instead of two. Parents have the right to receive test results on the same day, this time immediately after the blood is drawn. To provide

Patau syndrome, or Patau disease

Patau syndrome is a severe hereditary disease that manifests itself in the form of the synthesis of three, instead of the standard 23, chromosomes 13. Patau disease is a recessive gene and occurs in a family if it was inherited from one of the parents, while the likelihood of inheriting a double copy of the chromosome is 50%. A synonym for this disease is Down syndrome - complete duplication of the second chromosome. It should be noted that with Patau, another option is possible for the presence of an additional copy of the 13th pair, when the additional chromosome occupies a different position (inversion). This form is not recognized as a separate nosological entity due to the fact that differences in the manifestation of the syndrome may be minor or vary in different cases of the syndrome.

The risk of having a child with Patau depends on the number of triploid cells in a woman’s body before conception - the more cells the 3rd chromosome contains. The estimated risk is 1 in 670 pregnancies after childbirth and drops to 1 in 4,000 once pregnancy occurs.