Trismony 18 or Edwards Syndrome

Edward’s Syndrome is the second most common of the trisomy disorders, following Trisomy 21 (Down syndrome), but does not happen very often in developing fetuses. It occurs once in every 5,000 live-born infants, and most of these infants are female. Many times, the fetus that is affected with this disorder will not make it the full nine months. Other times, if the infant is born with the disorder they will only live for about a month or less. This disorder is seen more often when older women are pregnant, rather than young mothers. 10 percent of individuals with trisomy 18 will live past the first month, and some can even live into their twenties with severe developmental conditions and disabilities. The actual

Trisomy 13 is a very terrible disease to have. The disease causes many deformities. You would have a very deformed body. The disease happens when there is a third thirteenth chromosome. Instead of the normal two, there would be three. The symptoms are heart, brain, spinal cord, and bone abnormalities, also a hole in the iris lip and pallet. Along with those are small head, eyes, and lower jaw, then there is close-set eyes that can fuse into one and low-set ears.

Answer: The most common form of Down syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. This is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. To the genes when the cell division occurs is when the extra chromosome goes to find a cell and attaches

The most challenging medical diagnosis I have been introduced to is isodicentric chromosome 15 syndrome. This syndrome occurs in about 1 in 30,000 newborns and is a result from having an abnormal extra chromosome in each cell. The chromosome has mirror-image segments instead of a different segment at each

What would you do if you found out that your child has Trisomy 13 Syndrome? Trisomy 13 syndrome is a disorder in the chromosomes by which having three copies of chromosome 13 in a cell for the body instead of having two copies having three. The major causes of trisomy 13 is because of a trans-located chromosome to another chromosome 20%of this case is caused by trans-located chromosomes. The symptoms of the disorder are a cleft palate, cleft lip, heart defects, brain and spinal cord abnormalities, failure to growth and weight also feeding difficulties, and seizes along with having set eyes.

One out of five thousand children get Edwards or Trisomy 18 Syndrome and those children only live less than a few years. This negative mutation kills most babies after one year. It starts out all in the 18th Chromosome, which causes the disorder.

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.

One rare, but extremely fatal chromosomal disorder is Edwards Syndrome (Trisomy 18). “A trisomy is caused by a genetic error in which three copies of a chromosome (instead of two) are inherited from the parents.” (Perlstein, D.) This disorder is the second most common trisomy, first being Down Syndrome. The two disorder are very common, however, Edwards Syndrome is much more fatal and life-threatening. “Today the majority of fetuses with Trisomy 18 are diagnosed prior to birth.” (Perlstein, D.)

Will your child be the 1 out of 2500 births with Trisomy 18? Trisomy 18 is caused by an error in cell division while in embryonic development. It is caused by an extra chromosome on chromosome 18. (So, there is three chromosome 18 instead of the regular two.) Usual symptoms are low weight at birth, small abnormally shaped head, and organ defects that are often fatal.

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

A human being is supposed to have 46 chromosomes organized into 23 pairs; however, just because a human being is supposed to have that many chromosomes does not mean that all humans are born with all of their chromosomes. Missing a single chromosome can cause anything from Turner syndrome to Down syndrome to even death. For a person’s body to be missing a chromosome would be like a person trying to make a homemade cake from scratch while missing part of the recipe. For women with Turner syndrome, their missing chromosome affects everything from their height to whether or not they can conceive children when they are of age.

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.

Monosomy 18q refers to a chromosomal disorder resulting from the distal deletions of the long arm of chromosome 18. Distal 18q deletion was described for the first time by de Grouchy et al, in1964) de Grouchy (and it is the most common chromosome 18 abnormality, including deletion 18q, deletion 18p, and ring 18 (feenstra (that altogether occurrerd in proximately 1/40000 live births (cody).

Trying to understand the concept in depth was the difficult for me. I already learned about some areas such as the amount of chromosomes, genotype, and phenotype. I was not familiar with the specific arrangements and the certain disorders that can occur. It was very interesting going over the karyotype chart. Even though a nurse does not analyze the karyotype chart, I tried to figure out the difference between the normal chromosomes and abnormal chromosomes. Certain charges are noticeable and others are not. Abnormalities that can occur are aneuploidies, which are diseases caused by alterations in the normal (euploidy) number of chromosomes of the species. An example of aneuploidy is Down syndrome or trisomy 21, in which there are three copies of chromosome 21 instead of the normal pair. The chromosomal abnormalities group also encompasses deletions (the absence of part of a chromosome), inversions (in which a chromosome breaks and its pieces reconnect inversely), and translocations (pieces of a chromosome that exchange positions)" (biology).

In 1656, Thomas Bartholin described developmental birth defects characteristic to those present in newborns diagnosed with T13, only in that time is referred to as cytogenetic syndrome. It wasn’t until 1960 that German physician Klaus Patau discovered the underlying genetic cause by looking at the