Trisomy 13, also known as Patau syndrome ,Trisomee Trisome ,Trisomic, Chromosomal Abnormalities , Chromosome Anomalies Disorder Fetal Aneuploidy, trisomy D, is a chromosomal abnormality, it is a syndrome in which a patient has an additional chromosome 13 because of a no disjunction of chromosomes during meiosis. In this diseases each cell in the body contains three copies of chromosome 13 instead of the usual two copies. Only small percentage of cases occur when only some of the body's cells have an extra copy, which results in a mixed population of cells with a differing number of chromosomes; these cases are called mosaic Patau. Some of them are caused by Robertsonian translocations. The presence of extra chromosome 13 disrupts or effects the normal course of development, by causing heart and kidney defects, with other features characteristic of Patau
syndrome. Like all other nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of Patau syndrome in the offspring increases with maternal age at pregnancy, with about 31 years taken as the average. Trisomy 13 affects somewhere between 1 in 10,000 and 1 in 21,700 live
births. Trisomy 13, due to a translocation can be inherited. Even an unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This type of rearrangement is called a balanced translocation, because there is no extra material from chromosome 13. Although these people do not have signs of Patau syndrome, but people who carry this type of balanced translocation stood in increased risk of having children with the condition. But most cases of Patau syndrome are not inherited, but occur as a result of random events during the formation of reproductive cells. Unless and until one of the parents is a carrier of a translocation, the chances of a couple having another Patau syndrome affected child is less than even 1%. Trisomy 13 was observed by Dr.Thomas Bartholin, in 1657, but the chromosomal nature of the Trisomy 13 was ascertained by Dr. Klaus Patau in 1960. That's why the disease is named in his honor. Patau syndrome was also discovered in Pacific island tribes, but thought to have been caused due to radiation from atomic bomb tests. More than 80% of children, suffering from Trisomy 13, die within one year of their birth. It doesn't mean that it cannot be cure. In some cases there are some chances of curing it. Medical management of children, suffering from Trisomy 13 is planned according to case-by-case basis and it totally depends on the individual circumstances of the patient. Treatment of Trisomy 13 stresses on the particular physical problems, with which each child is born. Many infants face difficulty in surviving the first few days or weeks due to severe neurological problems or complex heart defects. In such casae surgery becomes necessary to repair heart defects or cleft lip and cleft palate. Speech, occupational, and physical therapy can help individuals with Patau syndrome to reach their full developmental potential
syndrome. Like all other nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of Patau syndrome in the offspring increases with maternal age at pregnancy, with about 31 years taken as the average. Trisomy 13 affects somewhere between 1 in 10,000 and 1 in 21,700 live
births. Trisomy 13, due to a translocation can be inherited. Even an unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. This type of rearrangement is called a balanced translocation, because there is no extra material from chromosome 13. Although these people do not have signs of Patau syndrome, but people who carry this type of balanced translocation stood in increased risk of having children with the condition. But most cases of Patau syndrome are not inherited, but occur as a result of random events during the formation of reproductive cells. Unless and until one of the parents is a carrier of a translocation, the chances of a couple having another Patau syndrome affected child is less than even 1%. Trisomy 13 was observed by Dr.Thomas Bartholin, in 1657, but the chromosomal nature of the Trisomy 13 was ascertained by Dr. Klaus Patau in 1960. That's why the disease is named in his honor. Patau syndrome was also discovered in Pacific island tribes, but thought to have been caused due to radiation from atomic bomb tests. More than 80% of children, suffering from Trisomy 13, die within one year of their birth. It doesn't mean that it cannot be cure. In some cases there are some chances of curing it. Medical management of children, suffering from Trisomy 13 is planned according to case-by-case basis and it totally depends on the individual circumstances of the patient. Treatment of Trisomy 13 stresses on the particular physical problems, with which each child is born. Many infants face difficulty in surviving the first few days or weeks due to severe neurological problems or complex heart defects. In such casae surgery becomes necessary to repair heart defects or cleft lip and cleft palate. Speech, occupational, and physical therapy can help individuals with Patau syndrome to reach their full developmental potential
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