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Down syndrome research essay
Conclusions of down syndrome
Conclusions of down syndrome
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I’m writing my paper on Down syndrome. Down syndrome is also known as trisomy 21. This happens when a person has a full or partial extra copy of chromosome 21. Most individuals with Down syndrome are small stature, have low muscle tone, and have upward slanted eyes. In America babies born with Down syndrome occurs one in every six hundred and ninety-one births. There is approximately four hundred thousand American’s that have Down syndrome and approximately six thousand babies born a year with this condition. John Langdon Down, an English physician in the late nineteenth century published an accurate description of a person with Down syndrome. This paper was published in 1866 and got Down the recognition as “father” of the syndrome. In later
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.
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
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.
Turner’s Syndrome, which is one of the most common chromosomal abnormalities, is defined as “a syndrome with a chromosome count of 45 and only one X chromosome.” Turner’s was first described in 1938. Henry Turner, an endocrinologist from Oklahoma City, was the first to discover this syndrome. He was curious about why seven of his female patients, six adolescents and one adult, who he was treating for dwarfism and lack of development, were not responding to the treatments. He described the women as not matured, with short necks and low hairlines in the back, and an increased angle at which the elbow was bent. After many tests, the results showed that all of the women were missing an X chromosome.
Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females.
Williams Syndrome, also known as Williams-Beuren Syndrome, is a genetic disorder caused by a deletion along chromosome seven. It is named for the two men who discovered and studied it in 1961, J.C.P. Williams of the United States and A.J. Beuren of Germany. Those with the disorder can be identified by their characteristic facial structure, the presence of cardiovascular anomalies and hypercalcemia, and a bright, outgoing personality. The exact number of those affected is unknown, however experts estimate that the probability of having Williams Syndrome is between 1 in 7,500 and 1 in 20,000, and occurs equally in men and women of every nationality.
Imagine that there is a disease that is terrible and causes trouble for you every day, there is no cure, there is only the dragging on of day after day. This is Tay Sachs Disease, it is a disease that is lifelong, that is, unless it kills you early on in life. This disease has lots of symptoms. These symptoms are a result of how the disease affects the brain and its functionality. This disease is an inherited disease, and is known as a serious genetic disease.(“Health and Wellness Resource center and Alternative Health Module”). This disease is a autosomally recessive disease that is caused by a defect in the HEXA gene which provides instructions for making part of an enzyme called beta hexosaminidase A, which is critical in the brain and spinal cord. (“Health and Wellness Resource center and Alternative Health Module”). This enzyme helps to break down GM2 or ganglioside, which without the enzyme to break it down, accumulates to toxic levels in the brain causing serious, life-threatening complications.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Three type of this disease are Infant and Juvenile Tay Sachs, Chronic Tay Sachs, and L.O.T.S which is similar to chronic, but occurs later in life.(“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Infant and Juvenile result in death while Chronic and L.O.T.S result in a life filled with muscular weakness, and trouble doing everyday activities.(“Health and Wellness Resource center and Alternative Health Module”). Tay Sachs can be spotted before the parents have children by either both admitting to a blood test or if they have a CVS, or Chorionic Villus ...
Cerebral Palsy (CP) is group of muscles that do not develop correctly. Cerebral Palsy can be the results of an accident or the nervous system not functioning properly. Learning, hearing, seeing, walking, and thinking can be affected by this disability. Most of the time Cerebral Palsy takes place during or after a mother gives birth but it can, also take place after a car accident Cerebral Palsy is a disability that has many different effects on people. A person can have CP and their hearing can be affected, but it does not affect anything else. While Cerebral Palsy can affect another person’s legs and sight. These affects are when a few muscles do not develop the they t way should therefore two people can have the same disability but have
Down syndrome is a very common disorder now a day’s, but not many know what it actually is. Down syndrome was a topic that was not as common back in that day. “John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly
An individual who has Down syndrome can be recognized as different from others since he or she have different physical features, but the question is, what causes individuals to have deformed face, little different features than someone who does not have Down syndrome? The reason some individuals are born with Down syndrome is because of an extra chromosome, this chromosome, which carries number 21. It is also known as Trisomy 21. Having this sort of disability, does not truly affect their life in a way they are not able to live, but it affects their cognitive levels, their physical growth of the child with Down syndrome. As the mother goes for an ultra sound, doctors can detect that the child within the mother’s womb has Down syndrome. (1) Mothers over age 35 have higher risk of giving birth to a child with Down syndrome, and 1 in every 1,000 women at the age of 30. In addition, in every 100 women, who age 40 there is a mother has a child with this case. As woman ages there is a higher chance of conceiving a child with Down syndrome than a woman who is in her mid-20s or younger. (2) This essay will highlight the effects and supports of Down syndrome in children.
In 1886, physician John Langdon Down was the first scientist to identify Down syndrome. Down was the administrator of a mental institute for children in Surrey, England. From his observations and work at the institute, he was able to identify a set of children who exhibited characteristics such as short nose, broad flat face, short and broad hands, which are features commonly identified with Down syndrome. He later wrote an essay entitled “Observations of the Ethnic Classification of Idiots” in which he asserts the notion that it was possible to classify different types of health conditions through race. His essay included his now famous classification of what is today known as Down syndrome, which he categorized as the Mongol...
Van Riper, Marcia. ?Living with Down Syndrome: The Family Experience.? Down Syndrome Quarterly. Volume 4, Number 1 March 2005. http://www.denison.edu/dsq/vanriper.shtml
Down syndrome, a genetic disorder, is the most common cause for intellectual disabilities, occurring at an average of one out of every 700 births (CDS, 2006). This disorder is caused by the extra chromosome 21 (also known as Trisomy 21). 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.
Down Syndrome Education Online -. Education online. 1996-2013. Web. The Web. The Web.