18 Or Trisomy 18 Syndrome

Edward’s Syndrome or also known as Trisomy 18 is a very serious and uncommon disorder, and there are three types of this disorder: Full, Partial, and Mosaic Trisomy 18. Trisomy 18 is a chromosomal condition that affects not only one part of the body, but usually many different limbs. Five to ten percent of the individuals with this disorder can live their lives with it, but they have to deal with severe disabilities. Since Edward’s Syndrome is not common, there are only a few solutions for the disease (Weiss 2012).

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.

Turner Syndrome is a disorder that affects one in every two thousand girls. Usually girls are born with only one X chromosomes. Some are born with an extra chromosome, or sometimes even half of one is missing which causes Turner Syndrome.

There is no way for anyone to survive with trisomy 13 without being on machines for forever. If you have the disease, you will die. The occurrence is one in every 10,000 people born. For every 10,000 people born there will be someone with trisomy disease. I believe that it is a very negative disease. It makes it impossible to survive with it. Trisomy 13 is a disease you do not want to have.

Before discovering HeLa cells, many scientists believed that humans had 48 chromosomes. While doing an experiment, a geneticist accidentally used a solution to magnify the chromosomes located inside the HeLa cells, therefore bringing up the possibility that humans actually have 46 chromosomes. These results were later solidified by Joe Hin Tjio, a cytogeneticist who received his Ph.D. in biophysics and cytogenetics from the University of Colorado. This led to scientists discovering genetic disorders that are still prevalent today, such as Down syndrome and Turner syndrome. “Down syndrome occurs when an individual has a full or partial extra copy of chromosome” (ndss.org). There are about 6000 babies that are born yearly and about 400,000 people living with this syndrome. Without the magnification of chromosomes, the population affected by Down syndrome would have had a higher death rate. In fact, the life expectancy increased substantially from 25 years in 1983 to 60 by the year of 2012 thanks to HeLa cells. Turner syndrome is a chromosomal condition that affects development in females. Females with this syndrome have a great chance of reaching age fifty, but their life expectancy is still reduced by thirteen

The cause of the disorder is being born with three copies of chromosome 18 but you normally would have two copies. One symptom of my disorder is Atrial Septal Defects, these defects are the two top chambers of your heart having a hole in them. Another symptom is Cachexia this is losing muscle mass gradually. Camptodactyly and deviation of the fingers which makes them deformed. Cognitive impairment is a decline of aging, memory, judgment and more. They also have facial deformities. One facial deformity hypertelorism is having skin folds in the corner of your eyes.

Trisomy 18, or Edwards Syndrome as it is more commonly known, is a genetic disorder in which there is a problem with cell division called meiotic disjunction. This disease is commonly associated with the well known Downs Syndrome which is also known as Trisomy 21. A disease with an unnatural number of chromosomes are is called a aneuploidy. Edwards Syndrome occurs when a child is born with an extra #18 chromosome. This occurs in about 1 in 2500 pregnancies and 1 in 6000 births. There is a high mortality rate for Edwards Syndrome, half of all children who are carried to term will be stillborn. With the survivors less than 10% will live to be a year old, boys also having a higher mortality rate. (Trisomy 18 Foundation 2013). In this paper I will be addressing key components to Trisomy 18 and looking more closely at a few cases of “long living” survivors. Specifically history, symptoms, diagnosis, screening and treatment will be examined.

Tay-Sachs disease is caused by a defective gene on chromosome 15. When both parents carry the

Edward’s disease, also known as Trisomy 18, is a chromosomal condition associated with abnormalities in many parts of the body. It is caused by the presence of all or part of an extra 18th chromosome, and in most cases, the extra chromosome 18 is present in every cell in the child’s body. The disease arises during the production of sperm and egg cells in either meiosis I or, more commonly, meiosis II. The name, Edward’s disease,

Edwards Syndrome also known as Trisomy 18 is a genetic disorder where there are three copies of

Trisomy 9 Mosaicism syndrome is an uncommon chromosomal condition in which the entire 9th chromosome appears three times, rather than twice in some cells of a person. This disease symptoms may vary greatly in severity, depending on the percentage of cells with the extra chromosome. Some of its common features involve pre-natal growth deficiency, mental retardation, structural malformations of the heart at birth, and physical abnormalities of the skull and facial region. Trisomy 9 Mosaicism can be caused by errors during the division of the parent's reproductive cells or during the division of body tissue cells early in the development of the embryo. Chromosomes are even subdivided into bands that are numbered outward from the centromere. For

At 13 days of life, this young male was admitted to the Neonatal Intensive Care Unit with multiple congenital anomalies including cleft lip and palate, sagittal synostosis, and coarctation of the aorta. A 550 G-band chromosome analysis revealed a karyotype of 46,XY,der(16)t(15;16)(q24;p13.3), consistent with an unbalanced translocation. A whole genome CGH+SNP microarray further defined the chromosome abnormality as a gain of at least 26.83 Megabases at the telomeric region of chromosome 15q and a loss of at least 1.13 Megabases at chromosome 16p13.3 including the alpha globin

There are 3 types of Downs syndrome, translocation; standard trisomy 21 and mosaicism. Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14. The person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes. The person with Translocation Trisomy 21 will exhibit all the same characteristics of a person with Standard Trisomy 21 since they have three copies of chromosome 21. Translocation occurs between 3% and 5% of cases of Down syndrome. Standard trisomy 21 is the most frequent form of downs syndrome. Those affected by trisomy 21 will have 47 chromosomes in every cell as opposed to 46 like normal. Mosaicism is similar to standard trisomy

Turner syndrome is caused by abnormalities in the X chromosome. It can be caused if the X chromosome is partially or completely missing. In some cases affected women only have a structural change in the chromosomes of some of their cells. This is called mosaic Turner syndrome. Both kinds of Turner syndrome are a random chromosomal disorder that starts when there is an error in cell division during early fetal development, or in the formation of the parent’s reproductive

Down syndrome is a genetic disorder in which a person is born with an extra copy of chromosome 21. There are three genetic variations that cause Down syndrome: Trisomy 21, Mosaic Trisomy 21 or Translocation Trisomy 21. There are many ways in which theses disorders affect the body.  Trisomy 21 occurs when an egg or sperm comes in with an extra copy of chromosome 21, then, once an embryo is formed and starts to develop, the chromosome is replicated in every single cell of the embryo. Trisomy 21 is the most common type of Down syndrome. About 92% of Down syndrome patients have this type. People with Trisomy usually have physical problems.