¶ … Edwards Syndrome, Trisomy 18 8 sources ( 4-5 Print Sources 3-4 online Sources) All questions answered essay ( mandatory): -What ? (Discription genetic disorder) -What genes chromosomes linked disorder? -Describe populations affected Edwards Syndrome (Include gender, age & number affected USA wordwide.
Edwards syndrome which is also known as Trisomy 18 is a genetic disorder that is caused by the presence of a third copy of chromosome 18 instead of the normal two copies. The extra 18th chromosome comes as a result of nondisjunction of the chromosomal material during meiosis. As a result of failure in the segregation of a chromosome to the daughter cells, there can be errors in the meiotic division leading to an extra chromosome. This extra chromosome usually occurs before conception and it is the second most common autosomal trisomy that carries to term after Down syndrome though it is more common in females than males and it affects the normal development of a fetus in the womb leading to intrauterine growth retardation leading to children having low birth weight. It leads to effects such as abnormalities of organs or hearth defects. It was named after John H. Edwards who was the first to describe it in the year 1960 Buyse, 1990()
Genes and chromosomes linked to the disorder
Edwards syndrome occurs as a result of a person having a third copy of the genetic material of chromosome 18. It can occur when a person has the whole copy of the 18th chromosome which leads to Trisomy 18 or when they have a part copy of the 18th chromosome which results from translocations. Translocations are extremely rare but when they occur, the person has two copies of the 18th chromosome and the extra material from the 18th chromosome is attached to another different chromosome. The physical signs of partial Edwards syndrome depend largely on the site of attachment of the extra chromosome. If only part of the long arm of chromosome 18 is attached to the other chromosome then the physical signs may be less severe than those typical of trisomy...
Down Autism Down Syndrome and autism are two conditions that can affect the lives of people, including their ability to learn and to participate in society. Moreover, Down Syndrome and autism affect how a person is perceived by others. Down Syndrome is the most common genetic condition in the United States, affecting one in every 691 births (National Down Syndrome Society, 2013). It is also the most common cause of learning
[J-L Gueant2 et. al, (2005)] Cognitive Functioning and Dementia 2001 study at the university of Guelph, Ontario, Canada has shown that the level of cognitive functioning may have implications for the onset of dementia among downs syndrome patients. The base for the research was the accepted theory that higher education implies greater 'synaptic reserve'. Earlier studies among healthy population has revealed that many years of education have an effect of slowing
Chicoine also cautions that whenever a patient declines in function, a thorough evaluation is necessary "to look for reversible causes, or, if no reversible cause is found, to confirm that the decline is consistent with Alzheimer's disease" (Chicoine pp). In other words, just as in the general population, Alzheimer's disease is a diagnosis of exclusion in persons with Down's (Chicoine pp). Because traditional neuropshychological testing, such as used for
So, they are saying that the initial screening followed with a second round of screening have proved to have a detection rate as high as 84%, the article continues. Also, integrated screening (combining the results of tests in the first and second-trimesters) has also proved to be valuable in terms of detection of DS during pregnancy. The problem with integrated screening, the article points out, is that there is quite
If Jane had exhibited a family history of genetic abnormalities then the clinic could easily be held at fault in a court of law. The doctors might have considered John's cousin but could have just as easily believed that a healthy young couple would not have opted for a voluntary amniocentesis that might place them at risk for miscarriage. After all, the couple had great trouble conceiving and if they
Hearing loss 7. Heart problems (American Accreditation HealthCare Commission, 2009) The Cleveland Clinic reports that individuals with Down syndrome have different experiences in terms of the problems with health than those experienced by the normal population and these problems include a weakened immune system and premature aging. Alzheimer's disease is stated to be "far more common in people with Down syndrome..." (2009) Those who are 35 to 40 years old and who
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