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Klinefelter syndrome paper
Klinefelter syndrome paper
Klinefelter syndrome paper
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Genetic Disorders
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.
Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. “Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.” The X chromosome is one of two sex determining chromosomes. When the gene lengthens it switches off production of a protein that is involved in brain development and other functions.
There are many different characteristics with individuals who have Fragile X. For example, they have narrow faces, large ears, a prominent jaw and forehead. Most people with Fragile X can get very angry and they can have bad anxiety. Also, they are usually hyperactive and they tend to be very fidgety they do not seem to stay still they are always moving and doing something. “About one-third of individuals with fragile X syndrome have features of autism spectrum disorders the affect communication and social interaction.” Unlike many other syndromes those affected by Fragile X are expected to have a average life span and have fewer health problems.
According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated w...
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... they are still human beings and they deserve to be treated like one. Every individual is affected by some kind of disorder.
Works Cited
Schoenstadt, M.. N.p.. Web. 12 Mar 2014. .
The U.S, National Library of Medicine,. N.p. Web. 12 Mar. 2014. .
"Associated Conditions." National Down Syndrome Society. N.p., n.d. Web 12 Mar. 2014. http://www.ndss.org/Resources/Health-Care/Associated-Conditions/ "Turner Syndrome." - Genetics Home Reference. N.p., n.d. Web. 11 Mar. 2014. .
Schoenstadt. "History of Klinefelter Syndrome." EMedTV: Health Information Brought To Life. N.p., n.d. Web. 11 Mar. 2014. .
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 responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
...rlier, they are subject to terrible treatment, and very little contact with health care professionals.
Turner’s syndrome is a genetic conditions that affects the female’s sex chromosome. In (http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001417/) Turner’s syndrome occurs when cells are missing all or part of an X chromosome. It’s common of the female patient to only have one X chromosome. Although, some individuals may have two X chromosomes but one is defective. It is thought that an estimated 1 out of 2000-2500 females suffer from this genetic condition worldwide but it’s usually females with this condition don’t survive their birth. Due to this abnormality, the genes that is defective “affect the growth and sexual development of the female” (http://learn.genetics.utah.edu/content/disorders/whataregd/turner/). However other disabilities and delays do occur even though these traits can vary case by case.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
It is important to note that genes themselves do not cause disease genetic disorders are caused by mutations that make a gene function improperly. For example, when people say that someone has the cystic fibrosis gene, they are usually referring to a mutated version of the Cystic Fibrosis Transmembrane Conductance Regulator gene, which causes the disease. All people, including those without cystic fibrosis, have a version of the Cystic Fibrosis Transmembrane Conductance Regulator gene.
... Any human being that requires such treatment should not be removed from this earth and that should be taken into account when making new policies regarding this subject; whatever they may be.
...e (Diagnosis and Management of Fragile X Syndrome, 2005). Most symptoms of Fragile X can treated with different types of therapy whether it is educational, behavioral, or physical. Certain medicines can also help treat certain symptoms (Fragile X Syndrome, 2013). The life of an individual with Fragile X would not be as easy as a normal individual. Although Fragile X is not that severe, you would still need to be assisted with many daily activities. You would not need 24 hour assistance or assistance with little things such as picking something up and moving it around, but assistance is still recommended whether it be by the family or other certified individuals. The amount of symptoms an individual has also effects how they live. If an individual only experiences a few symptoms, then they will not require as much assistance as someone who experiences more symptoms.
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
Wattendorf, Daniel. "Diagnosis and Management of Fragile X Syndrome." Am Fam Physician (2005): 111-113. Web. 30 May 2010. .
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
Klinefelter syndrome, although it can sometimes appear as an extremely uncomfortable and complicated condition, is nevertheless on that can be controlled, and to an extent, managed. This syndrome is relatively easy to diagnose, as the telltale sign that reveals the presence of Klinefelter is having two X chromosomes (ex. XXY), as opposed to a single X chromosome (ex. XY). Overall, this brings a person’s chromosome number to forty-seven, as opposed to the normal forty-six. Under a light microscope, a diagnosis can be made and delivered to the patient extremely quickly.
He published a comprehensive medical description of the syndrome. It was not until 1959, that it became clear the syndrome was due to lack of sex chromosome material. Turner's Syndrome is a rare chromosomal disorder that affects one in approximately 2,500 females. Females normally have two X-chromosomes. However, in those with Turner's Syndrome, one X chromosome is absent or is damaged.
They are deemed mentally ill because the fit certain criteria’s and are not characterized as mentally ill to become alienated by society. Forced treatment works to help people with mental illness reason. Those that have a mental disorder cannot reason appropriately and could do something hazardous. In fact, mental health professionals say forceful treatment has great results when dealing with their most difficult patient. Society has a responsibility to care of their citizens. If the mentally ill are left untreated they can harm themselves which is society’s responsibility to avoid. In some cases, such as anorexia patients starve themselves resulting in fatality and it is society’s job to protect them from such a result. The responsibility to take care of the mentally ill and the rest of society is more important than the autonomy of the mentally ill. There are certain conditions' that result in a person being forced into treatment, the decision is made in court. All treatments respect the person’s
They are free to seek their treatment have other options to choose