Trisomy 13 or Patau Syndrome is a genetic disease in which the person has 3 copies of the genetic material from chromosome 13 instead of having 2 copies. It occurs when the extra DNA from chromosome 13 appears in some or all of the body's cells. The treatment of this disorder differs from child to child and depends on the symptoms.
Trisomy 13 (Patau Syndrome)
Background (description of the disease, its symptoms, and impacted population)
Klaus Patau was a German-American geneticist, and together with his research colleagues, described the condition in 1960. The syndrome's clinical appearances were described in 1657 for the first time by Erasmus Bartholin, but he did not know its aetiology (Patient Information, n.d.). Trisomy 13 is a chromosomal condition linked with severe physical and intellectual disability. Those suffering from Trisomy usually have spinal or brain abnormalities, heart defects and smaller, not fully developed eyes -a condition referred to as microphthalmia, cleft lip, an extra toe or finger and hypotonia. Because of the nature of the life-threatening problems that accompany the condition, most of the children who have the condition succumb to it in the first few weeks of their lives. Only 5% to 10% of the children with the condition manage to live to see their first birth day (Genetics Home Reference, 2017).
Most Trisomy 13 cases are as a result of having 3 chromosome 13 copies in the body's cells instead of the normal 2 copies. This leads to a disruption of the body's development and so leads to symptoms that characterize trisomy 13. Another instance when one can develop trisomy 13 is when a portion of chromosome 13 attaches to another chromosome as reproductive cells develop in the early development stages of the fetus. Those affected in such a way possess the usual 2 copies of chromosome 13, but also have an extra chromosome 13 attached to one of the chromosomes. In some instances, just a portion of Chromosome 13 is available in 3 copies. The signs and symptoms for such cases are often different from those observed where there is full trisomy 13 (GHR, 2017).
The occurrence of trisomy 13 is one child for every 16,000 newborns. While trisomy 13 can occur to a child conceived by a woman of any age, the risk of a case increases with the age of the woman (GHR, 2017).
Incidence of Disease
Platau syndrome is the third most frequently occurring chromosomopathy. One of 16,000 new borns carry trisomy 13 and 80% of the cases involves a fresh mutation with myeosis non-separation from the
The forms of translocation aren't rare. A newborn is likely to record polydactilia, cheilognatopalatoshisis, micrphthalmia, dolihocephalia and microcephalia. The brain is also likely to record some ultrasound changes (Misanovic, Jonuzi, Bisacevic & Vegar, 2002).
A big number of fetuses with the condition are likely to die in the uterus or be stillborn. Of the children born alive, just 20% live past the first month and only 5% live past 6 months (Fleischer et al., 2011).
Risk Factors
A family or personal history of bearing children with the condition is a risk factor. Risk also increases with maternal age, but not to the extent that it does with Down's Syndrome or Edwards' Syndrome (PI, n.d.).
Maternal Age: meiotic non-disjunction's occurrence of the failure of the proper separation of chromosomes during the process of meiosis increases with maternal age. Older women therefore record higher risk of giving birth to children with the condition. The average age of mothers who bear children suffering from trisomy 13 is 31 (Natural Standard, 2011).
Genetic Carriers: people with translocations where chromosome 13 is involved may bear children suffering from trisomy 13. Studies have indicated that parental origin could be a factor determining the risk of one inheriting the responsible translocation trisomies. There is a lower likelihood of inheriting paternal translocations than maternal translocations.
Predisposition to Meiotic Non-Disjunction: It has been reported that some mothers may have a higher predisposition to meiotic non-disjunction. They therefore record greater risk of bearing a child with trisomies. While the risk of mothers who had previously bore children with trisomy 21 is low, it is statistically significant. Trisomy 13 and trisomy 21 occurrences in one family have been reported (NS, 2011).
Other Factors: Gender and race factors have been reported to determine longevity of trisomy 13 patients. Females who are non-white happen to have longer than median survival time. It has also been reported that gestational obesity as well as maternal obesity may lead to an increase of the risk of developing trisomy 13 but the claims are not conclusively backed with evidence (NS, 2011).
Treatments or Management
A diagnosis of the condition can be done before the birth of the baby by amniocentesis through the study of chromosomes…
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