Peutz-Jeghers Syndrome Analysis

How are doctors able to diagnosis Noonan Syndrome? It is based on the person’s clinical symptoms and signs. There are 55 clinical tests that are available, what these tests do is check the sequence analysis of the entire coding region, which means they check if there is any possible mutation in the genes. One of these tests is called PTPN11 Gene Sequencing, what this test is intended for is to diagnosis Noonan syndrome, and to confirm that a mutation accrued. These tests are mainly done when there are parents that have been affected with this disorder, and are afraid to pass it down to their

Familial adenomatous polyposis (FAP) is a genetic disease that can be inherited. If a person has FAP, they are likely to get colorectal cancer. If FAP is not treated, there is about a 100% chance you will receive colorectal cancer. FAP produces growths with mucus on the inside walls of the colon and rectum. The growths are called polyps. You can get between 100 and 1000 polyps in just 10 years. The genetic test that they run for FAP is a blood screening test for the adenomatous polyposis coli (APC) gene. The blood test is for checking for a mutation in the APC gene. If the results are positive, closely related family members should be tested too. You should also be tested if colon cancer is hereditary, or if you have a history of more than

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

You can be tested for it while your mother is pregnant. Or, you can be tested as a carrier of Familial Dysautonmia. It mostly affects Ashkenazi (Eastern European) Jewish People, 1 in 27 of this ethnic group are carrying it. A carrier is a person who does not show the gene, but can potentially pass it on to their children.

Treacher Collins Syndrome is an uncommon inhertance usually from mom or dad. My paper will go over the causes, symptons, treatment, and possible future Genetic Technology that can be done to prevent and cure this disorder. This is not so much a life-threatening syndrome, but it does cause symptoms showing dramatic facial differences and internal issues.

Familial Adenomatous Polyposis is typically diagnosed when a doctor finds multiple polyps in your colon or large intestine. A person with more than 100 polyps is considered to have FAP. A blood test is then done to look for the mutated APC gene. Since you have an almost 100% chance of getting cancer from the growths the treatment is to have them

Hereditary breast and ovarian cancer syndrome (HBOC) and LS (also known as hereditary non-polyposis colorectal cancer (HNPCC) combined likely affect 1 in 250 individuals in the general population, therefore, suggests that primary care providers (PCP) actively cares for a number of these individuals and their family members (Metcalf, Tanner, Buchanan, 2010). Failure to identify and manage individuals with HBOC and LS can result in more harm and increase poor cancer prognosis (Metcalf, Tanner, Buchanan, 2010; Rosato et al., 2013). There are a number of guidelines from prominent organizations including the United States Preventive Services Task Force (USPSTF) and Evaluation of Genomic Applications in Practice and Prevention suggesting that identification of HBOC and LS patients can improve outcomes through enhanced screening and preventive measures (Metcalf, Tanner, Buchanan, 2010). Although not recognized as a universal agreement, the best approaches to high risk individuals with HBOC and Lynch syndrome is a primary care setting, until there is universal agreement with improved identification of LS risk measures (Metcalf, Tanner, Buchanan, 2010). Researchers are exploring recommendations to offer genetic testing for LS to all individuals with diagnosed CRC, with the intent of reducing morbidity and mortality in family members (Bellcross et al., 2011). Currently there are no significant efforts on a national level to facilitate widespread genetic screening to prevent LS adult onset conditions in family members of affected individuals using a public health model (Bellcross et al., 2011). The same concepts and processes used in newborn universal screening are being considered as a model for implementing universal LS screening on a population level (Bellcross et al., 2011). In recognizing universal LS

This testing can be done through various processes. Many go through the usual tests that get blood and tissue samples from your body so it can be analyzed. There are also those that perform genetic tests, especially if you have a history in the family with this disease. If you are a woman, you might also undergo mammogram or a pap smear.

Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect every person differently, and not everyone with it develops the same signs and symptoms. Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm. But assisted reproductive procedures

Hutchinson-Gilford progeria syndrome is a very rare genetic disorder that causes the affected individuals to appear older than what they are. Individuals are able to be affected by this disorder as earlier as a their first few months of life. There have been reported cases of infection seen in the fetus. Characteristics of progeria include limited growth such as short stature and low body weight, full body hair loss, and facial features that resemble an aged person. This genetic disorder can lead to other health complications such as degeneration of bone mass and tissue, scleroderma, kidney failure, loss of eye sight, atherosclerosis, and severe cardiovascular problems. There is a genetic test to diagnosis the disorder at a younger age called HGPS. Currently, there is no cure or treatment for the disease. However, patients can undergo certain surgeries such as

Addiction is a word that many people would associate with the body and its craving of a substance of any kind. Many individuals feel as if being dependent upon a substance is something that could be preventable and that the human body can live without. Though most substances an individual is addicted to are not needed to live a healthy life, the addiction could potentially kill that individual. Other substances such as food, one cannot live without. Food, unlike other additions, is a substance that the human body needs to survive. In recent years, there has been an upcoming epidemic regarding the obesity rate and the need for individuals to understand that lack of exercise and the increase in amount of unhealthy food is killing them. However, in some cases it may not be the lack of exercise and the unhealthy food choices alone that is keeping some individuals in a category labeled obese; conversely it could be a genetic condition keeping them that way.

Birt-Hogg-Dube syndrome is a rare disorder where you have certain tumors. Most tumors appear on the face, forehead, and neck. BHD is caused by mutations in the FLCN gene. (Genetics Home Reference) BHD is also inherited from parents or the grandparents. The symptoms are, tumors on face, neck, and the forehead. (Genetics Home Reference) BHD increases the risk of getting cancer.

When it comes to Jeune syndrome the primary problem rose from the disruption of proteins found in the cilia. The cilia is known as the hair like structures that protrude from the cell membrane and is responsible for moving the cell they are attached to or moving the liquid that is adjacent to the cell (Miller et al 2013). Very few people view the cilia as a signaling hub which contains the noncanonical Wingless (WNT), Hedgehog, and platelet-derived growth factor (PDGF) signalling systems, and their disruption leads to striking developmental defects (Wang et al

Kinefelter syndrome is a genetic condition that occurs in men as a result of an extra chromosome. The most common symptom is infertility. Humans have 46 chromosomes, which contains all of a person's DNA and genes. Two of which that determines a persons gender. Kinefelter syndrome is the result of one extra X written as XXY. Some of the cells in a male's body have an additional x chromosome. It is found in about 1 out of every 500-1,000 newborn males. The additional sex chromosome results from a random error during the formation of the egg or sperm. Women who have pregnancies after the age of 35 have a slightly increased chance of having a boy with this syndrome. Males who have Kinefelter syndrome may have the following symptoms: small firm

In one side if the results are negative will provide great relief and peace of mind, while a positive result will facilitate the prognosis, early treatment and a positive effect on quality of life and life expectancy. Two important examples of the benefit of having more access to genetic information are the newborn screening and cancer screening. The first one allows the detection and early management of serious conditions such as phenylketonuria in newborns. The second one is of vital importance in the early detection of cancer as long as the evaluation and follow-up in those patients who have higher predisposition to suffer this disease. The regular screening of prostate, breast, and ovarian cancer, to mention some, have helped to identify individuals at risk based on their family history and to improve the management of the condition increasing their regular check-ups