Translating Dosage Compensation to Trisomy 21
explanatory Essay
798 words
Down syndrome is common within the United States. According to Gould and Dyer (2011), Down syndrome is an example of trisomy due to there are three chromosomes that are present versus two in the 21 position. Meaning, people with Down syndrome have a total of 47 chromosomes instead of the original 46. The body is marked by the effects of Trisomy 21. The effects of Trisomy 21 can lead to defects of physical and mental development. Down syndrome was at first also called monogolism, but now it is more commonly known as Down syndrome. The risk of giving birth to a child with Down syndrome increases with maternal age. A woman at age 30 has a risk of approximately 1 in 1000 in bearing a child who has Down syndrome, a woman at age 35 has a risk of 1 in 500, and at age 40 there is a risk of 1 in 100 (Gould & Dyer, 2011). It is unknown if this is due to the cause by the damage of the oocytes resulting of degenerative factors with aging or environmental substances. Some cases it was to be due to paternal origin also. This disorder can be detected by a positive triple screen test on maternal blood followed by an amniocentesis (Gould &Dyer, 2011).
According to Gould and Dyer (2011), characteristics in people with Down syndrome are typically a small head with a flat facial profile, eyes are slanted and the irises contain a Brushfield spots, mouth tends to hand open, large tongue, and high-arched palate. The person can also have small and a single palmar crease, hypotonic muscles, joints are loose, cervical abnormalities, short stature, delay in developmental stages, sexual development is delayed or incomplete, and children are at risk for other problems such as visual issues, hearing problems, obstructions in the digestive tract, celiac diseas...
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... is done, then the nurse is the one to follow up with the patient for any concerns or questions that they may have. Silencing of the chromosome 21 allows older women to have children without the possible risk of having a child with Down syndrome. The silencing of chromosome 21 is a major event for nurses, due to it helps possibly increase the lifespan of child and allows people to have children no matter what age they are.
Works Cited
Gould, B.E. & Dyer, R.M. (2011). Pathophysiology for the Health Professions (4th Ed.).(pp. 150-154). St. Louis: Saunders.
Jiang, J., Jing, Y., Cost, G., Chiang, J., Kolpa, H., Cotton, A., Carone, D., Carone, B., Shivak, D., Guschin, D., Pearl, J., Rebar, E., Byron, M., Gregory, P., Brown, C., Urnov, F., Hall, L., & Lawrence, J. (2013). Translating Dosage Compensation to Trisomy 21. Nature, 500, 296-300. doi: 10.1038/nature12394
In this essay, the author
- Explains that down syndrome is an example of trisomy due to there are three chromosomes that are present versus two in the 21 position.
- Explains that people with down syndrome have a small head, flat facial profile, eyes are slanted, mouth tends to hand open, hypotonic muscles, joints are loose, cervical abnormalities, short stature, delay in developmental stages, sexual development is delayed or incomplete.
- Explains that the research of translating dosage of the trisomy 21 gene was done to see if the human x-inactivation could be put into the one copy that has the extra chromosome.
- Explains that the people that contributed to the study found a way that they could robust the competence of chromosome 21 to be silenced.
- Explains that silencing chromosome 21 in vitro can increase the health of a child mentally and physically. nurses can treat the child just like any other child regardless of their genetic composition.
- Explains that xist expression triggers chromosome 21 repression and reverses deficits in cell proliferation and neural progenitors, which has implications for hypocellularity in down's syndrome brain.
- Introduces gould, b.e., and dyer, r.m. (2011). pathophysiology for the health professions.
Related
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- Alzheimer's Disease and Down's Syndromeexplanatory essayDown?s Syndrome, Trisomy 21, or Mongolism is one of the most common causes of mental retardation. The majority of Down?s Syndrome patients have a moderate retardation although it can range from mild to severe. Trisomy 21 occurs in about 1 in 800 live births. This incidence increases markedly as the age of the mother increases over 35. The prevalence in children born to young mothers is 1 in 1000, while it increases to almost 1 in 40 in children born to mothers over 40. Most individuals with Down?s Syndrome have characteristic features such as upward slanted eyes, broad flattened face, short neck, and a prominent tongue. Muscle coordination is often impaired in these individuals, resulting in uncoordinated posture and balance. Congenital heart disease is found in forty percent of these individuals, along with a near twenty fold increase in the risk of kidney malformation, thyroid abnormalities, diabetes, leukemia. Neurological retardation and impaired immune systems render these individuals more susceptible to infection and disease.
In this essay, the author
- Explains that alzheimer and down's syndrome, trisomy 21, or mongolism, is one of the most common causes of mental retardation.
- Explains that in the early l900s, downs syndrome patients rarely lived to reach the age of twenty. with advances in modern health care, most individuals, excluding those with irreparable heart damage, live to adulthood.
- Explains that the disorder was initially described as mongolism by british physician john langdon down. bleyer hypothesized that it was related to the failure of chromosomes to separate (nondisjunction).
- Explains that in down's syndrome, one pair of chromatics fail to separate during reproductive cell division, resulting in a daughter cell with two and none, which then dies.
- Explains that three to four percent of patients with down's syndrome have translocation, a slightly different chromosomal abnormality.
- Explains that the brains of down's syndrome patients show morphological differences when compared to normal individuals. the volume of the whole brain is significantly smaller in trisomy 21 patients.
- Explains that as individuals with down's syndrome approach middle age, their brains begin to show pathological changes similar to alzheimer disease.
- Speculates that down's patients may be predisposed to plaque formation because they possess an extra copy of chromosome 21, which encodes the precursor for the amyloid protein.
- Explains that neurofibrillar tangles are flame-shaped alterations composed mainly of condensed cytoskeletal proteins.
- Explains that senile plaques are similar to tangles in their topographic hierarchical distribution. eighty percent of the population over 80 years of age show significant amounts of amyloid protein.
- Explains that an investigation was performed by sparks and hunsaker to determine the presence of alz-50 neurons in down?s patients verses controls.
- Explains that hyman demonstrated that the accumulation of alz-50 neurons may result in the formation of diffuse plaques, which may be the precursor of further plaque development.
- Explains that research has indicated a positive correlation between the amount of plaques and tangles, and presence of organic heart disease.
- Opines that the triplicate chromosome 21 plays a key role in the etiology of plaques and tangles.
- Cites sparks and hunsaker's work on down?s syndrome, alz-50 reactive neurons, and senile plaque formation.
- Explains that hyman, b. t., silverman w. and beyreuther, k. regulation and expression of the alzheimer's beta amyloid protein in down?
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- Explains that most mothers do not take the test due to the risk of miscarriage.
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- Explains that down syndrome is not a handicap birth defect, though they are more reliant on family more than others. brain development is the source of the issue when it comes to many problems dealing with it.
- Explains the causes of down syndrome, the effects it has on somebody, and the final results on how it works.
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1623 wordsRead More - Down Syndromeexplanatory essayDown syndrome is one of the most common chromomal defects. It occurs in about 1 out of 800 births. The probability of having a child with Down syndrome increases with the mother’s age. The rate for women in their twenties is about 1 in 2000 births. This number increases dramatically for a women in her forties to about 1 in 100. The cause of Down syndrome is an extra chromosome. In 95 percent of the cases, the child has three instead of two chromosomes on the 21 chromosome. There is a test called amniocentesis that can tell the mother if her child will have Down syndrome. Amniocentesis involves inserting a needle into the amniotic sac to withdraw a small about of the amniotic fluid. The cells in the fluid are then analyzed to see if the child has Down syndrome. There is small risk of a miscarriage or infection to the uteru...
In this essay, the author
- Explains that the eyes of nearly all children and adults with the syndrome slant slightly upwards. there is also a fold of skin that runs between the inner corner of the eye and the nose.
- Explains that hearing loss can cause speech problems in children.
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- Explains that children with down syndrome weigh less than average at birth, are shorter than other children, and have flabby muscle tone and poor coordination due to less control over the motor nerves.
- Explains that there are three forms of down syndrome: trisomy 21 and mosaicism.
- Describes how they worked for an independent living center in little rock, which had two men and one woman who had downs. they were grateful for the attention they received and enjoyed their job.
1391 wordsRead More - Downs's syndrome as a Congenital Birth Defectexplanatory essayMany children every year are with some sort of Congenital Birth Defect. In fact, according to an article written in Children’s Health on NBC News website, eight million documented yearly, suffering from some type of birth defect. A particular Congenital Birth Defect that relates close to home is Downs’s syndrome. My Aunt Carolyn was diagnosed with Downs’s syndrome at birth and has struggled in many ways growing up including but limited to her health, making friends, and learning disabilities The National Downs’s syndrome Society also known as NDSS, is a society that researches information on the birth defect of Downs’s syndrome and aims at informing others of the causes, symptoms, the three different types, how common it is, when it was discovered and by who, and what impact it has on society. The organization states that Downs’s syndrome occurs when an individual has full or partial extra copy of chromosome 21.
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- Explains that there are three types of downs's syndrome: trisomy 21, translocation, and mosaicism.
- Explains that the nation downs syndrome society does not say that down's syndrome is partial to a particular race or economic level. all three types of down syndrome are linked to genetic conditions, but they are not hereditary.
- Explains that the dedicated research on the congenital birth defect has improved the life span of those with the disability.
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747 wordsRead More - Essay On Down Syndromeexplanatory essayThis paper audits and gives the commitment of Down syndrome is a chromosomal issue. . In ladies age 20-30, one in 1,400 births have Down syndrome, while in ladies 30-35; about one in 750 births have down syndrome1. People with Down syndrome could have minor to unsafe taking in inabilities. Down syndrome transporters are focused to numerous therapeutic issues, for example, heart irregularities thyroid organ brokenness. Survival rates climbed quickly in years as issues identified with Down syndrome. The hereditary reason for Down syndrome is the point at which an individual inherits all or a piece of an additional duplicate of chromosome 212. Down syndrome, the legacy of a whole third duplicate of this chromosome, represents 95 percent of Down syndrome cases. . Future examination acknowledges three potential essential anticipation methods, maintaining a strategic distance from generation at progressed maternal age, preimplantation hereditary conclusion for couples who are at high danger of Down's syndrome, and folic corrosive supplementation.
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- Explains that down syndrome is a chromosomal issue, and that the hereditary reason for it is the point at which an individual inherits an additional duplicate.
- Explains that the hereditary reason for down syndrome is the point at which an individual inherits all or some piece of an additional duplicate of chromosome 21.
- Explains that a developing group of proof suggests that down syndrome could be connected to strange and methyl digestion system, which can prompt dna hypo-methylation, unsteadiness, unusual and aneuploidy.
- Explains that one percent of down syndrome pregnancies are in ladies with a family history of the issue, so the effect of this movement on life commencement commonness is minimal.
563 wordsRead More - The Chromosome Disorder Down Syndromeopinion essayDown syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation. It is caused by a chromosomal abnormality: for some unexplained reason, an accident in cell development results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. In most cases, the diagnosis of Down syndrome is made according to results from a chromosome test administered shortly after birth.
In this essay, the author
- Explains that the chromosome disorder down syndrome is the most common and readily identifiable chromosomal condition associated with mental retardation.
- Explains that 4,000 children with down syndrome are born in the u.s. each year, or about 1 in every 800 to 1,000 live births.
- Explains that there are over 50 clinical signs of down syndrome, but it is rare to find all or even most of them in one person.
- Explains that children with down syndrome are smaller than their non-disabled peers, and their physical and intellectual development is slower.
- Explains that approximately one third of babies born with down syndrome have heart defects, most of which are correctable. some individuals have gastrointestinal tract problems that can be surgically corrected.
- Explains that some people with down syndrome may have atlantoaxial instability, a condition that makes them more prone to injury if they participate in activities which overextend or flex the neck.
- Explains that children with down syndrome may become obese as they grow older. a supervised diet and exercise program may help reduce this problem.
- Recommends that parents enroll their child in an infant development/early intervention program, which offers special instruction in language, cognitive, self-help, and social skills, as well as specific exercises for gross and fine motor development.
- Explains that there is a wide variation in mental abilities, behavior, and developmental progress in individuals with down syndrome.
- Opines that it is important for families and all members of the school's education team to place few limitations on potential capabilities. teaching tasks in a step-by-step manner with frequent reinforcement and consistent feedback has proven successful.
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In this essay, the author
- Explains that down syndrome is a disorder that delays the development of children. it is associated with weak muscle tone, short neck, flat facial profile, upward slant to eyes, and floppiness.
- Explains that there is no real cure for down syndrome, but there are countless therapies that can benefit each patient’s specific needs.
- Explains that down syndrome occurs when a baby is born with an extra chromosome in each of their cells.
- Explains that due to the slow growth and developmental problems of people with down syndrome, they are more susceptible to certain medical problems.
1211 wordsRead More - Down Syndrome Chromosome Twenty Oneexplanatory essayDown syndrome affects one out of 700 children born in the United States. A chromosomal disorder associated with the twenty first chromosome pair, brings a lifetime of challenges to the affected person. Down syndrome is associated with intellectual disability, a characteristic facial appearance and reduced muscle tone during infancy as stated by Genetics Home Reference (2013).
In this essay, the author
- Explains that down syndrome affects one out of 700 children born in the united states. it is associated with intellectual disability, a characteristic facial appearance, and reduced muscle tone during infancy.
- Explains that down syndrome occurs as the result of having an extra twenty first chromosome in the cell.
- Explains that the disease of down syndrome is not found within a certain gender or race, but is found equally between all races and genders.
- Explains that down syndrome can be detected before having a child. pregnancies with low levels of afp can have screening tests done.
- Explains that down syndrome affects the person's life by reduced cognitive skills and ultimately has an effect on their lifespan.
- Explains that there is no cure for down syndrome, but some of the added affects can be treated by surgical repair.
- Explains that physical therapy is used to help with motor skills, since there is no cure for down syndrome. parents should learn to teach their child at the child's own pace.
- Opines that people with down syndrome tend to be kind-hearted and easy-going people. they can still preform everyday tasks as normal people without the disease can.
- Cites winders, p. c., pt. (n.d.). physical therapy & down syndrome.
923 wordsRead More - Down Syndromeexplanatory essayDown syndrome is a birth defect caused by a genetic disorder that affects 350,000 people in the United States. It is caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children. Genetics is the study of heredity or how certain traits are passed from parents to their children. Genes are the basic unit of heredity. Cells are the building blocks of your body and each one of us has more than 100 trillion cells. Our genes are located in chromosomes. Each cell in your body contains 46 chromosomes or 23 pairs. In a person with Down syndrome, there are 47 chromosomes. In 1956, a French researcher named Jerome Lejeune used a new powerful microscope to view human strands of DNA. DNA is what holds an individual person’s genes. He studied these DNA strands and determined that there is an extra strand in chromosome 21, which is now called “Trisomy 21” tri meaning three and somy for the word chromosome – meaning three chromosomes. No one knows exactly what causes Down syndrome aside from it being genetic.
In this essay, the author
- Explains that down syndrome is a birth defect caused by abnormalities in the genes and is not inherited, meaning that parents do not pass this onto their children.
- Explains that in the 1960s, the condition became known as down syndrome in honor of the english doctor john langdon down, who studied people with mental retardation.
- Explains that people with down syndrome suffer from mental retardation, congenital heart defects, circulatory problems, respiratory ailments, and digestive problems.
- Explains that children with down syndrome have difficulty with their cognitive (thinking) abilities, problem solving, memory retention, social, language, and motor skills.
- Opines that although people with disabilities are becoming more acceptable in society, we still have a long way to go.
- Explains that there is genetic research and studies in biochemistry to find a way to prevent down syndrome. the human genome project is identifying the genes in the human body.
- Explains that down syndrome is caused very early in the development of the fetus. there are four prenatal tests used to detect this condition.
- Opines that people afflicted with down syndrome should be treated with respect and dignity just like you and me. they are productive individuals and have many things to offer.
1123 wordsRead More - karyotypeexplanatory essayDown Syndrome is a disease in which there is an extra 21st chromosome in the body. This is caused during cell division. When the baby is in the mother womb, down syndrome can be detected. It can also be detected after the baby is born as well. This disease causes the baby to not develop properly. Researchers have been studying the causes of down syndrome and one of the highest risks, is having the baby when you are over 44 years old. Once you have reached your mid 40s, the possibility of having down syndrome increases to 1 in 35 pregnancies. For women that are 30 years or younger have a lesser chance of having a baby by 1 in a thousand pregnancies. Teenagers also have a higher possibility of having a child born with this disease , they have a percentage of 70-80 percent of having a baby with this disease.
In this essay, the author
- Explains that down syndrome is a disease in which there is an extra 21st chromosome in the body, which causes the baby to not develop properly.
- Explains that children with down syndrome have distinct physical characteristics because of this disease. they have short necks, flat noses and low muscle tone.
- Explains turner syndrome, a condition that only occurs in females, where they are missing the x chromosome in their sex pair.
- Explains that most girls with turner syndrome live healthy lives with regular estrogen medication and can't form breasts.
- Explains that klinefelter's syndrome occurs in males who have an extra x chromosome. one in every 500 men have this syndrome, but have no symptoms for it.
- Explains that having low testosterone development, males don't make the sperm needed, but have normal sex lives. some boys with this syndrome develop speech problems and social awkward characteristics.
- Explains that myelodysplastic syndrome is a disease that is the cancer of the bone marrow and blood. the immature blood cells don't work correctly and anemia, bleeding and infection can occur throughout the body.
- Explains that a biopsy of the bone marrow can determine if you have myelodysplastic syndrome and how to prepare for treating it.
- Explains that crossta, p. (2009, april 8), "what is down syndrome?" and "turner syndrome causes, symptoms and diagnosis".
- Cites the national institute of health's klinefelter syndrome website, and national cancer institute’s public information on myelodysplastic syndrome.
735 wordsRead More