Describe trisomy 21. Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21.…
Also, they have a more compromised immune system and are prone to Thyroid Dysfunction. Males with Down Syndrome are also sterile and people diagnosed with Down Syndrome have reduced longevity. Epstein was most famous for his “Gene Dosage Effect Hypothesis”. The Hypothesis basically stated that having extra genes created extra proteins which then result in the manifestation of Down Syndrome.…
Genetics Involving Pheochromocytomas Jillian Benson Baker University School of Nursing Genetics Involving Pheochromocytomas Pathophysiology Pheochromocytomas and paragangliomas are rare, benign tumors that develop from chromaffin cells, which are located in the neuroectodermal tissues around the spinal column and the adrenal glands (Grouzman et al., 2015 and Santos, 2014). Pheochromocytomas are located inside of the adrenal gland, while paragangliomas are located outside of the adrenal gland. These tumors are known to secrete neurotransmitters such as epinephrine and norepinephrine, as well as catecholamines (VanMeter & Hubert, 2014, p. 423). According to a research article written by Eric Grouzmann (2015), “In chromaffin cells and pheochromocytes, norepinephrine (NE) and epinephrine (E) are stored in vesicles where they sustain a passive leakage into the cytoplasm before being recaptured in the vesicle pool” (p.2). This is important because, the enzyme responsible for transforming norepinephrine into epinephrine is only in the adrenal medulla and is…
When genetic disorders are discussed, both in popular culture and in medicine, they are viewed as negative ways, and for obvious reasons: many genetic disorders, like the one Sierra has, can easily kill or seriously inhibit a person from living a “normal life.” Throughout recent medical history, there has been a lot of focus on learning new ways to control or treat certain genetic conditions. In fact, the entire discussion of how to treat genetic disorders can be brought back to our class discussion of the legacy of eugenics. With this project, I wanted to depict two specific things: I wanted to analyse how Sierra’s life plays into the idea of leading a “normal life.” In addition to that, I wanted to examine how new ways of treatment are replacing old ideas of eugenics, and whether eugenics plays into Sierra’s experience in any way.…
Edwards syndrome also known as Trisomy 18 occurs in about 1 out of every 2500 pregnancies in the United States alone. This genetic diseases causes severe development delays due to an extra chromosome. Down syndrome is also caused because of an extra chromosome, however the difference between these two is that Edwards syndrome deals with more medical complications and has a higher risk factor on the early months and years of life. It usually occurs during the sperm and egg formation. The disease is rarely inherited and the parents are not at fault for their child obtaining the disease.…
The most common genetic disorder is “Trisomy 21,” also known as “Down Syndrome (DS),” occurring as often as 1 in 660 live births. The genetic basis for DS was discovered in 1959 when the smallest chromosome in humans showed dysfunction. Trisomy 21 occurs in three…
Down Syndrome How does Down Syndrome affect the one who has it and the family around them? Down syndrome is a genetic birth disorder that can cause intellectual and physical disabilities. There are three types of Down Syndrome, all of which the symptoms and physical features are similar. Although the severity can be different depending on the child. Along with these types of Down Syndrome can come various health issues.…
Genetic Disease Project: Trisomy 21 What is Trisomy 21? For starters, Trisomy 21 is another for a genetic disease called Down Syndrome. Genetic Home Reference says “Trisomy 21 is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All individuals affected experience cognitive delays, but the intellectual disability is usually mild to moderate. You get Down Syndrome by having a extra set of chromosomes.…
Those who live with Down syndrome (Downs) have normal lives even if they may have a few characteristics that are different from those who do not. There are many types of Down syndrome, symptoms, diagnostic tests, and complications that characterize people who have Downs. But as shown, they are not as different to everyone else as some people may think, besides the extra 21st chromosome and a few other features. These can include physical characteristics, intellectual struggles, and a few diseases that they are more susceptible to. However, these difficulties can be cured and helped with medication, tutoring, and other forms of aid.…
Whether its start to end, head to tail, or conception to birth there is countless of things that could go wrong. A genetic disorder is a problem that is caused by one or more malformations in the genetic information. Some can go from being unnoticed and some can be very obvious. Genetic disorders are mostly all very unusual. There is an endlessly amount of genetic disorders that exist, the following are just three out of the thousands.…
Down syndrome individuals have a predisposition to periodontal disease; however, prevention precautions can be implemented to create an overall healthy oral cavity. Trisomy 21, more commonly known as down syndrome, is a genetic disorder that arises from a defect involving chromosome 21. Cells in the human body are composed of 23…
Genetic counselors come from backgrounds in genetics and in counseling. They provide key information and guidance for expecting parents. A genetic counselor would be able to identify potential birth defects and genetic disorders. There are several different kinds of genetic counselors with specific areas of expertise. Depending upon the reasons a family sought out a counselor, can dictate what kind of counselor they get to work with.…
There is a majority of people who kill babies because of disability problems. Taking away the lives of humans due to disorders they may have is such a harsh, heartless and unsympathetic action. Everyone should be given the opportunity to live. Babies with Down syndrome are born with an extra chromosome 21, leaving them with mental and physical issues. They may be different from other kids and it occurs in any race.…
Down's Syndrome is caused by the presence of a single extra chromosome when the sperm cell and ovum join together. The general scientific option is that the extra chromosome produces extra enzymes in excessive quantity. It is believed that the excessive enzymes somehow cause them to interfere with each other and that the developing cells are inefficiently nourished and the bloodstream becomes clogged with the unused nutrients. As a result the organs and tissues do not mature properly. At birth the heart, lungs and brain are malformed and function…
An ethical dilemma is a complex situation that challenges our moral values and beliefs. We are presented with choices/options each day, and our decision to pick one option over the other is usually based on our ethical stance, beliefs, and values. Once these decisions are made, there are consequences, which could be positively or negatively impactful. Abortion has been a very sensitive topic over the years and once again one of the topics that takes center stage during this election year. There are many sides to the argument.…