Edwards Syndrome Research Paper

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).

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.

The chromosomal abnormalities include turner's disease, laron dwarfism, noonan syndrome, sinotina wiley syndrome, russell xifushi, mutation / deletion of the short stature homeobox-containing gene, and skeletal dysplasia.

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.

This rare genetic disorder has multiple alternative names. The shortest one is referred to as CFC syndrome, but the other two

Furthermore, people born with this unique genetic defect share some similar characteristic traits and features that are both physical

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

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.

normally patients with these syndromes were sterile, and Eric had little body hair and had told him he never

Stevens-Johnson Syndrome is extremely rare, affecting between 2.6 to 7.1 people per million each year. The disorder can affect anyone, however, studies show that SJS is twice more common in females, more common in caucasians, and elderly people as they are more likely to use the medications that cause it. The condition is 100 times more likely to occur in people who are HIV-positive and those with systemic lupus erythematosus,

Angelman Syndrome is neurons in the brain that lack the expression of a non-functional UBE3A. UBE3A is Ubiquitin-protein ligase and E3A is an enzyme that is encoded in humans by the UBE3A gene. This enzyme includes targeting protein that declines inside cells. Angelman Syndrome is affected by problems with a gene in chromosome fifteen which is called Ubiquitin-protein ligase E3A (UBE3A). Symptoms are usually noticed during six to twelve months of age in a child. A lack of crawling or babbling, having a frequent smile, laughter, and a happy, excitable personality are early symptoms of the disease. As a person gets older they have minimal or no speech and have an inability to walk, move or balance well, which is also called ataxia. They display jerking movements, tongue thrusting, bursts of laughter and have epilepsy.

Autosomal dominant for classical type. But EDS can also be inherited in autosomal recessive or x-linked fashion-

Leigh’s Disease is a rare genetic neurometabolic disorder. Typically you begin to notice this within the first year of the childs life. This disorder shows gradual loss of mental abilities and physical abilities such as movement. End results seem to be death due to respiratory failure within a few years. Only a very few rare cases have included adults and have had symptoms worsen slowly (Leigh syndrome - Genetics Home Reference).

This condition is caused by a genetic mutation. The condition develops in people who inherit the mutation from each of their parents.

Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes