Smith Magenis Syndrome Research Papers

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.

Turner syndrome results in a monosomie of chromosome X and is the only viable monosomie known. One in every 5,000 newborns can inherit this disease. The mental abilities are not affected, although they are usually sterile owing to underdeveloped sex

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.

These characteristics can gradually diminish as the child ages, but it is important to note that diagnosis does not change because of this.

Within a year of the examination, two of the three children died. A few years later, one of the children’s parents brought a newly born sibling with the same symptoms to Tay’s clinic; leading Tay to believe whatever the disorder was, quite possibly was hereditary (Cowan 133).

Marfans Syndrome is a disease that results from a change of a person's DNA that can be classified as a genetic disorder. The change can be every minute, such as a single mutation in a particular gene or complex also the addition or removal of a complete chromosome. Marfan syndrome is a hereditary disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardiovascular( Mayoclinic.org).

The disease may be found on a chromosome analysis. There is no said or found cure or treatment for the disease. It’s very rare, but not impossible, to get the disease from parents or grandparents.

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

Stevens – Johnson syndrome (SJS) is a severe immune response-mediated hypersensitivity reaction to particular drugs or infections that causes rashes, sloughing of the skin, and the disruption of mucous membranes. This condition may affect abdomen, back, breasts, feet, gastrointestinal system, genitals, hands, head, immune system, knees, legs, lungs, neck, nose, reproductive system, respiratory system, urinary system and eyes.

Stevens-Johnson syndrome (erythema multiforme) is an acute inflammatory polymorphic disease affecting skin and mucous membranes. All ages may be affected, and the incidence is equal in both sexes. This is a severe disease with a 5%–15% mortality rate. Ocular involvement, which occurs in as many as half of patients, varies from a mild mucopurulent conjunctivitis to severe perforating corneal ulcers. Blindness occasionally occurs in patients with severe late-phase corneal complications, such as ulceration, vascularization, and perforation.

If there is one genetic disease you do not want, it is Deletion Syndrome. Deletion Syndrome is a disorder caused by a defect in chromosome 22. Also, this genetic disease can affect many parts of the body. People with Deletion Syndrome have a small piece of chromosome 22 missing, which is the microdeletion. This Microdeletion involves many genes.

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

Another symptom of Marfan’s is a long, narrow face. Another noticeable characteristic of someone with this genetic disorder is they tend to have crowded teeth because the roof of the mouth is arched. Some people with this disorder have a breastbone that sticks out or caves in. They may have the disease if they look like they have a curved backbone. People with Marfan’s usually have flat feet also. Most people with Marfan syndrome tend to have problems with the heart and blood vessels. Some people with Marfan syndrome have problems with the eyes, for example, nearsightedness.( Phillips, 2006)

A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. DiGeorge syndrome affects many parts of the body and has a prevalence of 1: 4000

A chromosomal disorder is caused by an abundance or reduction of genes on the chromosomes. This type of disorder may also be caused by structural changes within these chromosomes; this is known as an aneuploidy (Porth, 2015). The most common chromosomal disorder is Down syndrome of which there are three types: complete trisomy 21, translocation, and mosaicism (Porth, 2015). Since its first identification in 1866, researchers have become more knowledgeable about the etiology of Down syndrome. When one studies etiology, pathogenesis, and clinical manifestations of Down syndrome, he or she will begin to understand multiple chromosomal disorders.