A Short Note On 13, And Patau Syndrome

Trisomy 18 cannot be cured because you cannot fix chromosomes but only can fix the defects that occur because of the chromosomal disorder. This disorder is a problem with the number of chromosomes a person is born with. The 18th chromosome is half duplicated causing birth defects and problems in their development, also allowing only for a short lifespan. This disorder is not inherited, but instead happens randomly when the chromosomes of the mother and father combine and a third chromosome 18 is formed. There is no known cause for why this extra chromosome develops in the fetus.

This syndrome is tested at birth with fluorescent in situ hybridization or FISH. With blood samples, they test the blood for the deletion of chromosome 7. FISH checks if many as of 22-26 genes are deleted. Because there is no cure for this syndrome, you will most likely have physical therapy and early education to help early development symptoms like speech delays and heart problems. This syndrome is not caused by environmental factors, it is completely genetic and NOT the parents fault.

Trisomy 21, also known as nondisjunction, means that there is an extra copy of chromosome 21 in the cell and is the most common. Translocation occurs when there are two 21 chromosomes plus an extra piece of chromosome 21 that had attached itself to another chromosome during the division process. Those who have mosaic down syndrome contain an extra chromosome 21 in only some of their cells while others are unaffected. People with mosaic down syndrome tend to have milder physical features and intellectual abilities than those who have trisomy 21 and translocation down syndrome. According to Mark Selikowitz, maternal age is a significant factor in causing trisomy 21. When females are born, all the eggs that a woman will produce are already present. The eggs wait years, some longer than others to be released and it is during the wait period (some 20-40 years) that it is believed errors can occur. On the contrary, man’s sperm does not remain standing therefore less probability for error. Additionally, people with a family history of down syndrome and people who carry the genetic translocation are factors to consider whether the child would be at

1. What is the likelihood that any of their children (sons and/or daughters) will be born with the disorder?

Edward's Syndrome is from a trisomoy of chromosome 18. It can affect one in every 10,000 new borns and causes many problems from almost every organ system. Some infants with the syndrome will survive less than a year.

b. How is it caused on a genetic level? Be specific about the chromosome #, genetic mutation, dominant or recessive, and chance of inheriting the disorder.

One of the most common surgeries performed on babies is called Esophageal Atresia/Tracheoesophageal Fistula. That is just the medical term for when a baby is born with a defect in their esophagus and trachea and needs to have it repaired. About 90% of babies are born with this condition. It occurs in 1 in 3,000 to 5,000 newborns. The good thing is that since it happens so frequently, the survival rate is almost 100%. The most rarest condition is ectopia cordis. That is when a baby is born with their heart outside of their chest. Ectopia Cordis occurs 8 per one million live births. The survival rate is very low. 90% of the babies are either stillborn or pass away within the first week of being out of the womb.

This syndrome is not very common, because it is a rare condition. Its prevalence is not certain, but the proximate amount is 5 to 10 individuals per million newborns. Research workers appraise that there are approximately 200 to 300 individuals around the world who have this disorder. It is observed with equivalent recurrence in both males and females over all ethnic groups.

This disease is genetically inherited and is a dominant characteristic, therefore unfortunately the offspring of a victim has 50% chance of inheriting the disease.

"Trisomy 13." National Institutes of Health. U.S. Department of Health and Human Services, 17 Mar. 2016. Web. 17 Mar.

Scientist have been trying to find a way to cure Trisomy 13 but none have succeeded There have been a couple ways to help diagnose this disease, one being an abnormal heart placement and another being MRI scan may show a problem with brain structure. Sadly there

Trisomy 13, also known as Patau Syndrome, is a genetic disorder occurring in about 1 in 12,000 to 16,000 newborns. Trisomy 13 is the second most common trisomy, behind Trisomy 21, or Down Syndrome. Patau Syndrome is caused when a zygote develops with three copies of chromosome 13 instead of the normal two copies. Although Trisomy 13 is usually the result of three copies of chromosome 13, it can also be caused by part of an extra chromosome 13 (partial trisomy 13), or the presence of extra chromosome in only some cells (mosaic trisomy 13), although the latter two forms are rare.

known risk factor is advanced maternal age-at age 35, a woman has 1 chance in

Also known as Patau Syndrome, Trisomy 13 is a genetic disorder in which the person gets three copies of chromosome 13, which in normal cases, is two copies. This extra copy of chromosome may cause neurological and heart defects making it challenging for infants to survive.

I choose this rare disease because not only is it unheard about but the present dilemma plaguing the medical field on whether or not a child born with this disease should be given adequate care for survival is shocking. Everyone deserves to be administered the best possible treatments available regardless of what their “quality of life” is determined to be. Examining the physiological aspects and treatments available for T13 show that there should be no standard to which children born with the disease should be given higher priority with treatment based on severity.