SINDROME DE PATAU PDF

Causes[ edit ] Patau syndrome is the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome translocated before or at conception in a Robertsonian translocation. Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome. Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells eggs and sperm. An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes.

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Causes Edit Patau syndrome is the result of trisomy 13, meaning each cell in the body has three copies of chromosome 13 instead of the usual two. Patau syndrome can also occur when part of chromosome 13 becomes attached to another chromosome translocated before or at conception in a Robertsonian translocation.

Affected people have two copies of chromosome 13, plus extra material from chromosome 13 attached to another chromosome. With a translocation, the person has a partial trisomy for chromosome 13 and often the physical signs of the syndrome differ from the typical Patau syndrome.

Most cases of Patau syndrome are not inherited, but occur as random events during the formation of reproductive cells eggs and sperm. An error in cell division called non-disjunction can result in reproductive cells with an abnormal number of chromosomes.

For example, an egg or sperm cell may gain an extra copy of the chromosome. Mosaic Patau syndrome is also not inherited. It occurs as a random error during cell division early in fetal development. Patau syndrome due to a translocation can be inherited. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This rearrangement is called a balanced translocation because there is no extra material from chromosome Although they do not have signs of Patau syndrome, people who carry this type of balanced translocation are at an increased risk of having children with the condition.

The most common characteristics of this syndrome are problems such as late development, mental disability, multiple malformations, cardiomyopathy, and kidney abnormalities. The most common physical signs for Patau Syndrome are the decreasing of muscle tone, small hands, small ears, small head and mouth, as well as wide and short hands with short fingers. Physical development for children affected by Patau Syndrome occurs more slowly than children without Patau syndrome.

However, children affected by Patau Syndrome should still undergo regular physical activity, even though muscle development may occur more slowly. Diagnosis Edit Diagnosis is usually based on clinical findings, although fetal chromosome testing will show trisomy While many of the physical findings are similar to Edwards syndrome there are a few unique traits, such as polydactyly.

However, unlike Edwards syndrome and Down syndrome , the quad screen does not provide a reliable means of screening for this disorder. This is due to the variability of the results seen in fetuses with Patau. Treatment of Patau syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects.

Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.

Surviving children are described as happy and parents report that they enrich their lives. Children with the mosaic variation are usually affected to a lesser extent. One and ten year survival was Klaus Patau in

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