What Is Patau Syndrome?

What Is Patau Syndrome?

What Is Patau Syndrome?

Patau syndrome or Trisomy 13 is kind of genetic disorder. In this kind of disorder the number of the chromosome thirteen cells appears to be three times instead of twice in the person's body. This disorder is commonly diagnosed in one out of every ten thousand to sixteen thousand babies. This syndrome is usually not inherited but it is because of the irregular formation of the sperms and eggs due to extra chromosome thirteen cells in the parents. The infants with Patau syndrome usually die in early days or weeks of their birth, only five to ten percent of infected infants live for a year.

Patau syndrome is known by so many names in medical science. Some of them are given below:

- Trisome

- Trisomic

- Trisomee

- Trisomie 13

- Fetal Aneuploidy

- Patau's Syndrome

- Trisomy D Syndrome

- Trisomy 13 Syndrome

Symptoms of Patau Syndrome

There are so many common symptoms of Patau syndrome in infants. Infants mostly affected by this syndrome have heart defects, poorly or undeveloped eyes, extra toes and fingers, cleft palate or lips. In so many cases the growth and weight of the babies are not seen as in normal child case. They might have problem in feeding and even in some cases apnea (cessation of spontaneous breathing) can also be seen. Other symptoms may include: small ears, small head, scalp defects, mental retardation, skeletal abnormalities, etc.

Congenital heart defect is mostly seen in eight percent of babies. In which the heart is not doing its work properly and unable to pump the blood effectively. Patent ductus arteriosis is another common defect in syndrome affected babies. Beside this other common birth defects are: Omphalocele, Kidney defects, Holoprosencephal, Skin defects of the scalp.

Causes

The common cause of the Patau syndrome is the extra number of chromosome thirteen appears in some or all the cells in one's body. This extra DNA from chromosome results in Patau syndrome. If an extra chromosome thirteen is present only in few cells of the body then is called mosaicism.' The partial trisomy is when the part of an extra chromosome is present in the body cells. These extra materials are an obstruction in the normal development. The normal cells of the body only contain two copies of the chromosome thirteen, when these two copies get an additional chromosome thirteen copy in a cell it affects the normal growth ad development and hence results in Patau syndrome.

Treatment

The treatment a particular person receive is majorly depends upon the condition and symptoms of the particular patient. Treatment of syndrome is a gradual step by step process. The surgical means can sometimes retain the person's life for few months due to the high mortality rate with syndrome. Parents and surgeons have to take the important decisions regarding life prolong measures against the physical and neurological defects.

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