Down Syndrome Is An Inherent Issue Emerging From A Chromosome Deformity
explanatory Essay
1482 words
Down Syndrome
Down syndrome is an inherent issue emerging from a chromosome deformity, bringing about scholarly disability and physical variations from the norm including short stature and a wide facial profile. It emerges from a deformity including chromosome 21, for the most part an additional duplicate. Down syndrome may also be known as trisomy 21 due to the fact that that is the chromosome that is affected.
In every cell in the human body, there is a center, where an innate material is secured in qualities. Qualities pass on the codes accountable for the greater part of our obtained properties and are gathered along bar-like structures called chromosomes. Usually, the center of each cell contains 23 sets of chromosomes, half of which are obtained from each watchman. Down confusion happens when an individual has a full or partial extra copy of chromosome 21.
This additional innate material changes the course of progression and causes the characteristics associated with Down confusion. A few the ordinary physical characteristics of Down turmoil are low muscle tone, little stature, an upward slant to the eyes, and alone significant wrinkle over the point of convergence of the palm - though every person with Down confusion is a remarkable individual and may have these ascribes to different degrees, or not at all.
For a considerable length of time, individuals with Down Syndrome have been mentioned in craftsmanship, writing, and science. It wasn 't until the late nineteenth century, in any case, that John Langdon Down, an English doctor, distributed a precise portrayal of a man with Down Syndrome. It was this insightful work, distributed in 1866, that earned Down the acknowledgment as the "father" of the Syndrome. Albeit othe...
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...s, and social and recreational exercises. People with Down Syndrome have fluctuating degrees of psychological deferrals, from exceptionally mellow to serious. A great many people with Down Syndrome have psychological postponements that are mellow to direct.
Because of advances in medicinal innovation, people with Down Syndrome are living longer than any time in recent memory. In 1910, youngsters with Down Syndrome were required to get by to age nine. With the revelation of antimicrobials, the normal survival age expanded to 19 or 20. Presently, with late headways in clinical treatment, most especially remedial heart surgeries, upwards of 80% of grown-ups with Down Syndrome achieve age 60, and numerous life considerably more. More Americans are interfacing with people with Down Syndrome, expanding the requirement for far-reaching state funded training and acknowledge.
In this essay, the author
- Explains that down syndrome is an inherent issue emerging from a chromosome deformity, bringing about scholarly disability and physical variations from the norm.
- Explains that in every cell in the human body, there is a center, where an innate material is secured in qualities. qualities pass on the codes accountable for the greater part of our obtained properties.
- Explains that additional innate material changes the course of progression and causes the characteristics associated with down confusion. the physical characteristics of down turmoil are low muscle tone, little stature, an upward slant to the eyes, and alone significant wrinkle over the point of convergence of the palm.
- Explains that john langdon down, an english doctor, distributed an insightful portrayal of a man with down syndrome in 1866, which earned down the acknowledgment as the "father" of the syndrome.
- Explains that propels in drug and science have empowered scientists to examine the qualities of individuals with down syndrome.
- Explains that there are two classifications of tests for down syndrome that can be performed before an infant is conceived: screening tests and indicative tests.
- Explains that pre-birth screening tests include a blood test and an ultrasound (sonogram). these tests measure amounts of different substances in the mother's blood.
- Explains the analytic techniques accessible for pre-birth determination of down syndrome are chorionic villus inspecting (cvs) and amniocentesis.
- Explains that down syndrome is recognized during childbirth by physical characteristics such as low muscle tone, a solitary profound wrinkle over the palm of the hand, smoothed facial profile, and upward inclination to the eyes.
- Explains that deferred improvement, learning inability, short stature, or discourse delay in a kid, brachycephalic, up slanting palpebral gaps, atlantoaxial flimsiness, inherent coronary illness,
- Explains that there is no cure for down syndrome but it can be controlled with treatment. early intervention programs with advisors and unique instructors can treat every youngster's particular circumstance.
- Explains that down syndrome is one of the most common disabilities in the united states. one in every 691 children is conceived with the condition.
- Explains that there are three types of down syndrome, one of which is called trisomy 21.
- Explains that the mosaicism (or mosaic down syndrome) is analyzed when there are a blend of two sorts of cells, some containing the standard 46 chromosomes, and some with 47.
- Explains that mosaicism is the minimum regular type of down syndrome and records for just around 1% of all instances.
- Explains that the translocation is the last type of down syndrome. the aggregate number of chromosomes in the cells remains 46.
- Explains that people with down syndrome have an immense impact on society. they have fluctuating degrees of psychological deferrals, from exceptionally mellow to serious.
- Explains that with advances in medical innovation, people with down syndrome are living longer than ever in recent memory.
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- Development and Learning For People WIth Down Syndromeexplanatory essayAll human beings are made up cells. In every cell, there is specific DNA that contains genetic material, which makes up a person. Genes are what is responsible for our appearance, and traits. Naturally, a cell is made up of 23 chromosomes. Whenever a person has an extra copy of chromosome 21; this individual will have Down syndrome. “It's this extra genetic material that causes the physical features and developmental delays associated with DS.” (“Down Syndrome.”). It can be inherited from one, or both of the parents. This genetic mutation affects individuals in the same way, however; it can be to different extremes. Some are mildly affected by this, while life for other people could be extremely difficult and challenging.
In this essay, the author
- Explains that a person with down syndrome has an extra copy of chromosome 21, which causes physical features and developmental delays associated with ds.
- Explains that down syndrome affects all types of people, no matter what color or gender. everyday activities involve a struggle and challenge to not only those diagnosed, but with those involved.
- Explains that down syndrome can be diagnosed and tested in two ways. prenatal screening tests and prenatal diagnostic tests are the most effective options.
- Explains that one in every 691 babies in the united states is born with down syndrome, making it the most common genetic condition.
- Explains that the most common type of down syndrome is called trisomy 21. it affects ninety-five percent of people with it.
- Explains that the most noticeable characteristics of down syndrome are low muscle tone, flat features in the face, "button" nose, upward slant to the eyes, abnormal ear shape, hyper-flexibility, and an enlarged tongue.
- Explains that children with down syndrome have a higher risk of developing leukemia, pneumonia, and alzheimer's disease.
- Explains that physical characteristics affect the appearance and health of those diagnosed with down syndrome, while mental development affects the learning processes, communications, and activities of these individuals.
- Explains the pattern of cognitive and behavioral features that are observed among children with down syndrome that differs from that seen in typically developing children.
- Explains that children with downs naturally have good social skills. learning can be a challenge, but when done correctly, it could be beneficial to the child.
- Explains that a child with down syndrome can't technically play sports and attend mobile activities as well as normal children.
- Explains that physical therapists play a key role in helping children develop strength and balance. the earlier your child begins physical therapy, the better the outcomes.
- Explains that physical therapy, speech-language therapy and occupational therapy help children develop in a positive way. a physical therapist can help the child gain motor skills and muscle tone.
- Opines that speech-language therapy would help the child develop speaking skill and pronunciation of words. a child with downs would normally take longer to learn a language.
- Opines that an emotional and behavioral therapist would be helpful in case of a child with downs who is frustrated.
- Opines that it is important not to stereotype individuals with down syndrome. they experience a full range of emotions and have their own characteristics, strengths, weaknesses and styles.
- Opines that no two people with downs have the same personality, but some do. quality educational programs, a stimulating home environment, good health care, and positive support from family, friends and the community enable them to develop their full potential and lead fulfilling lives.
- Explains that a person with down syndrome takes longer time processing information and learning. they are able to play sports and be active like normal people would.
- Explains the importance of early physical therapy for children with down syndrome.
- Explains fergus, kathleen. "symptoms of down syndrome." about.com down syndrome.
- Explains pulsifer, lisa, "down syndrome behavior in children." ehow. demand media, 20 oct. 2009.
2139 wordsRead More - Essay On Down Syndromeexplanatory essayDown syndrome was named after John Langdon Down, the British doctor who discovered the syndrome in 1866. The syndrome was not linked to chromosome twenty- one until 1959 by Jerome Lejeune. Down syndrome, the most common genetic condition, occurs in one out of six-hundred and ninety-one kids in the United States. This syndrome is caused by an extra number twenty-one chromosome, also known as trisomy twenty-one. In most cases it is caused by nondisjunction; which is sister chromatids of the twenty first chromosome that do not separate properly causing the child to receive an entire extra copy of that chromosome. In some unique cases this syndrome can also be caused by translocation and mosaicism. Children born with Down syndrome have some very unique physical characteristics; such as, low muscle tone, slanted eyes, big mouths, and a simian crease across the palm. These characteristics and many others are common but of course not found in every case of the syndrome. One characteristic that is found in every case is some amount of cognitive delay. Most people with Down syndrome suffer mild to moderate delay, although some unique cases of the syndrome deal with very severe cognitive delay.
In this essay, the author
- Explains that down syndrome was named after john langdon down, the british doctor who discovered the syndrome in 1866. it was not linked to chromosome twenty-one until 1959 by jerome lejeune.
- Explains that while a baby is still in the mother's womb there are tests and procedures to be done that can see if the baby will have down syndrome.
- Compares the development of a child with down syndrome to that of normal children, stating that infantry on cognition is delayed. speech errors are more common in children with down syndrome and this often leads to depression and anxiety.
- Explains that many children with down syndrome suffer from obstructive sleep apnea syndrome, which affects the hippocampus and frontal cortex.
- Explains that a child with down syndrome often goes to speech therapy to enhance his or her motor skills and language skills.
- Explains that schooling for children with down syndrome has been controversial due to the intellectual and emotional gap between them and those without it. elementary schools use mainstreaming, which places them in chronological classes. reading and math are done outside the classroom.
- Explains that middle schools and high schools often separate children with significant cognitive delay into special education classes of their own. this separation is tough on down syndrome children as they are routine people.
- Explains that the mental health of an adult with down syndrome has been linked to their cognitive understanding. the data showed that those with lower communication skills had a decrease in self-esteem.
- Explains the wide range of down syndrome related cognitive delay results in so many different stories. there are many reports of adults who have progressed tremendously and eventually were able to live on their own.
- Explains that many studies have been done to show the link between down syndrome and alzheimer's disease.
- Explains that people with down syndrome long for friendship and a sense of belonging just like anyone else.
- Explains that each child with down syndrome is going to differ when it comes to his or her cognitive delay. the environment and social atmosphere sounding the child will affect the way he or she develops.
1419 wordsRead More - Down Syndromeanalytical essayPeople with Down syndrome are first and foremost human beings who have recognizable physical characteristics and limited intellectual endowment which are due to the presence of an extra chromosome 21.
In this essay, the author
- Explains that parents who have a child with down syndrome have an increased risk of having another child in future pregnancies.
- Explains that many theories have been developed, but it is not known what actually causes down syndrome. hormonal abnormalities, x-rays, viral infections, immunologic problems, or genetic predisposition may be the cause.
- Explains that people with down syndrome have recognizable physical characteristics and limited intellectual endowment due to the presence of an extra chromosome 21.
- Explains that children with down syndrome are in need of the same kind of medical care as any other child.
- Argues that recent advances in molecular biology make it feasible to examine the genetic basis for down syndrome. early intervention programs, pre-school nurseries, and integrated special education strategies have demonstrated that youngsters with down syndrome can participate in many learning experiences.
1258 wordsRead More - Living With Down Syndromeexplanatory essayDown syndrome was first classified by Dr. John Langdon Haydon Down, who referred to persons with down syndrome as mongoloids because of their facial features being similar to those who are from Mongolia, particularly the slanted eyes (Moran). As a result this disorder was known as mongolism, but this is now considered offensive and has been recognized as Down syndrome since the early 1970s (Moran). Though Dr. Down didn't have down syndrome, he became an advocate for the proper treatment for people who were mentally handicapped. Dr. Down was the pioneer of discovering the similar traits of those who had down syndrome. However, it was the geneticist Jerome Lejeune who discovered the gene abnormality which in turn manifests the physical and mental traits Dr. Down was studying (Moran). Dr. Down showed us what Down syndrome looks like, but Jerome Lejeune showed us where it came from.
In this essay, the author
- Explains that down syndrome occurs when a baby is conceived, not after they are born or grow into adulthood. early detection is possible through amniocentesis or chorionic villus sampling.
- Explains that individuals with down syndrome have cognitive limitations, but how these limitations impact their everyday lives differs from person to person. testing begins at birth and continues throughout the lifespan.
- Explains that sleep apnea is also common with down syndrome because of airway obstructions.
- Explains that people with down syndrome are likely to develop aging conditions early on in life. they have memory loss due to the app protein that is common in people who have alzheimer's disease.
- Explains that there are more than 250,000 people living in the united states with a down syndrome diagnosis.
- Explains that trisomy 21 is the most common cause of down syndrome. it has three copies of chromosome 21 instead of two.
- Explains that children with down syndrome are referred to special education services based on a diagnosis of one of the 13 disabilities and an adverse affect on their education.
1842 wordsRead More - Down Syndromeexplanatory essayTrisomy 21 is caused, as the name suggests, by the triplication of the 21st chromosome. Genes which, simplified, contain the blueprints for our cellular structure, are grouped along rod-like structures called chromosomes. Normally, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. In Down syndrome (DS), however, the cells usually contain not 46, but 47 chromosomes. This excess genetic material, in the form of additional genes along the 21st chromosome, results in DS. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 250,000 families in the United States who are affected by DS. (Berg, 614) Discussed in this paper will be a more detailed description of the pathophysiology of Down syndrome, as well as the discovery, possible causes, physical features, associated conditions, possible treatment, electroneurodiagnostic corollaries, and psychosocial issues.
In this essay, the author
- Explains that trisomy 21 is caused by the triplication of the 21st chromosome, which contains the blueprints for our cellular structure.
- Explains that the "changeling" in gaelic myth was based on the idea that an elf or evil spirit had replaced the child with the offspring of a mischievous creature.
- Explains the basic structure of chromosomes to understand the pathophyisology of trisomy 21.
- Explains that human cells divide in two ways: ordinary cell division and meiosis.
- Explains that three to four percent of all cases of trisomy 21 are due to robertsonian translocation.
- Explains that the chromosomes are holders of the genes that direct the production of a wide array of materials the body needs.
- Explains that only a small portion of the 21st chromosome actually needs to be triplicated to get the effects seen in ds.
- Explains that there is a wide range of mental retardation and developmental delay among children with ds, including heart defects, epilepsy, hypothyroidism, and celiac disease.
- Explains that the actual causative factors of downs are still unknown. some professionals believe that hormonal abnormalities, x-rays, viral infections, immunologic problems, or genetic predisposition may be the cause of the improper cell division resulting in ds.
- Explains that the risk of down syndrome through robertsonian translocation decreases with age, whereas the risks for triplication of chromosome 21 are variable and increase exponentially.
- Explains that diagnosis of down syndrome can be done prenatally through screening and diagnostic tests, or through physical examination of the newborn.
- Explains that many physical characteristics form the basis for suspecting an infant has down syndrome. some infants with ds have only a few traits, while others have many.
- Explains that down syndrome also has many more serious associated conditions. not all conditions appear in all patients with ds, but the risk is generally higher than those without it.
- Explains that the most characteristic feature of ds in newborns and infants is hypotonia, which is weak or absent muscle tone.
- Explains that mental retardation occurs to some degree in all individuals with ds. the greatest problem is language development, and the ability to handle advanced cognitive strategies and processes.
- Explains that nearly all down syndrome patients exhibit a pathology characteristic of senile dementia — neuronal tangles, and plaque deposits exhibit themselves 15 years earlier than in patients without down's.
- Explains that sixty to eighty percent of children with ds also have hearing deficits. brain-stem auditory evoked potentials were examined in 37 adult patients with down syndrome and 37 age-matched normal subjects.
- Explains that 40 to 45 percent of children with down syndrome have congenital heart disease. thirty-three percent are endocardial cushion defects, and the remainder are verntricular septal defects.
- Explains that malformations of the gastrointestinal tract, including intestinal atresia and iperforate anus, occur in about five to ten percent of patients. hirschsprung's disease and gastro-esophogeal reflux are also reported.
- Explains that seizures are a risk for children with mental retardation, although the number is lower in ds, but it's larger than in the general population.
- Explains that epilepsy is more common in the first two years of life. the infantile spasm and generalized "tonic-clonic" seizure are also common.
- Explains when the second peak occurs is more debatable, with some researchers putting it at 15-25 years, while others put it in the third decade of life.
- Explains that pulmonary hypertension, upper airway obstruction, obstructive sleep apnea, thyroid dysfunction, diabetes mellitus, cataracts, and leukemia are associated abnormalities.
- Explains that electroencephalography has not been shown to have any conclusive diagnostic value for down syndrome, aside from the diagnosis of associated conditions such as seizure disorders and to some degree alzheimer's.
- Explains that there is no specific treatment for down syndrome, and that research is making great strides in identifying the genes on chromosome 21 that cause the characteristics of down syndrome.
- Explains that ds patients experience the same developmental stages as non-down's syndrome patients, including puberty, intimacy, and intimacy. males with down syndrome are generally accepted to be sterile.
- Concludes that while living with down syndrome is difficult and carries with it inherent challenges and unfortunately many health risks, it is possible for the ds patient to live a full and productive life.
- Summarizes len leshin's "trisomy 21: the story of down syndrome."
3121 wordsRead More - dowexplanatory essayDown syndrome is a genetic alteration that occurs by the presence of an extra chromosome. The cells of the human body have 46 chromosomes in 23 pairs distributed. One of these pairs determines the sex of the individual. People with Down syndrome have three chromosomes in the pair 21 instead of the two that usually exist; therefore, this syndrome is also known as trisomy 21. Down syndrome is not a disease. This syndrome is a more common genetic alteration of mental retardation or development. Down syndrome is an abnorma...
In this essay, the author
- Explains that john langdon haydon down described mental retardation in 1866, which became known as down syndrome. however, dr. down didn't know what caused it.
- Explains that down syndrome is a genetic alteration that occurs by the presence of an extra chromosome.
- Explains that there are no known with accuracy the causes of excess chromosome, although related statistically with a maternal age over 35 years.
- Explains that to detect the chromosomal abnormality during the prenatal period, it is unequivocally employ techniques of count. access to the material embryonic cell can assume a certain degree of risk for both the mother and fetus.
- Explains the technique of amniocentesis, which is used to obtain fetal genetic material. it is a technical and harmless procedure, but involves risks of 1-2% of abortion, injury, or infection.
- Explains that chorionic villus biopsy is used to get placental material vaginally or through the abdomen, usually between 8 and 11 weeks of pregnancy.
546 wordsRead More - Down Syndromeexplanatory essayA type of down syndrome occurs due to nondisjunction. Human beings have 23 pairs of chromos...
In this essay, the author
- Explains that genetic disorders are caused by irregularities in a person's chromosomes or genes. understanding down syndrome is essential.
- Explains that down syndrome has many different symptoms that come about due to the nature of the disorder.
- Explains that a type of down syndrome occurs due to nondisjunction. reproductive cells begin with 23 pairs of chromosomes.
- Explains that 5% of down syndrome cases are due to a chromosomal mutation known as translocation.
- Explains that treating people with down syndrome at an early age dramatically improves the lives of children with the disorder.
- Explains that modern research focuses on down syndrome. the synapses in the hippocampus are in interest to researchers because they hypothesize that the additional chromosome in pair 21 causes the
- Explains that down syndrome is a syndrome with varying symptoms for every person who has the disorder, causing each person to have their own unique problems. there is no universal solution in how to aid those with it.
954 wordsRead More - Parents and Children with Birth Defects: Down Syndromeexplanatory essayDown Syndrome is caused by an excess of chromosome 21 in some or all cells. “This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome”(Laney 7). Chromosomes are the type of structures which the genes are contained in. Normally, every person has 23 pairs of chromosomes. A chromosome is inherited by the parents, one from the father and one from the mother. After fertilization occurs an egg commonly contains 46 chromosomes. In some cases, though, their are mishaps before fertilization. “ A developing egg or sperm cell may divide incorrectly, sometimes causing an egg or sperm cell to have an extra chromosome number 21. When this cell joins with a normal egg or sperm cell, the resulting embryo has 47 chromosomes instead of 46”(ndss). When this manifests, a child is concieved with disformities, and intellectual affliction. The...
In this essay, the author
- Explains that down syndrome is a congenital disorder caused by an excess of the chromosome 21, and has many drastic effects for both the individual and his/her family.
- Explains that down syndrome is caused by an excess of chromosome 21 in some or all cells. chromosomes are the type of structures which the genes are contained in.
- Explains the health issues associated with down syndrome, such as slanted eyes, small mouths, large tongues and abnormally shaped ears.
- Explains that the chromosome count causes the brain to become slower, or in more severe situations, disfunctional, and health issues can also make learning a laborious process.
- Explains that down syndrome is caused by an extra supply of chromosome 21 in the forming body, which leads to health issues and intellectual disabilities.
- Cites "birth defects." home. n.p., n.d. web. 29 mar. 2014.
944 wordsRead More - Maternal Age and Down Syndromeexplanatory essayIn 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...
In this essay, the author
- Explains the influence of maternal age on down syndrome, which affects one in 800 to 1,000 babies in the united states.
- Explains that john langdon down, the first scientist to identify down syndrome, categorized it as the mongolian type of idiot.
- Explains that john langdon down and dr. jerome lejeune correctly identified down syndrome as a chromosomal abnormality, not based on one’s race.
- Explains that by the 20th century, down syndrome was the most recognizable form of mental disabilities because of the distinctive facial features associated with the disease.
- Explains that the first scientist to assume that down syndrome was actually a genetic disorder was jerome lejeune in 1959.
- Explains that down syndrome is the most common nonlethal trisomy disorder. multiple investigations have been done to identify possible risk factors.
- Explains the physical characteristics of down syndrome, including abnormal facial features, hands and feet, low muscle tone, and heart defects.
- Explains that down syndrome is one of the most common chromosomal abnormalities especially in women over the age of 35.
- Explains that lionel penrose conducted one of the first studies to investigate the link between a parent’s age and the risk of down syndrome in 1933.
- Opines that prenatal diagnosis is important to allow for timely medial treatment of a condition, allow parents the chance to mentally and emotionally prepare to raise children with disabilities or health problems.
- Explains that prenatal testing options include cbs, amniocentesis, and ultrasound.
- Illustrates the process of an ultrasounds probe where amniotic fluid is withdrawn through the needle and studied for analysis.
- Explains that prenatal testing can include amniocentesis, chorionic villus sampling, and percutaneous umbilical blood sampling.
- Explains that research is also working on new genetic tests to detect chromosomal abnormalities such as preimplementation genetic diagnosis and the analysis of circulating fetal dna.
- Explains that down syndrome is not hereditary because it is caused by random events during the formation of reproductive cells, particularly in the egg cells.
- Explains that women over 35 years of age are especially vulnerable to giving birth to a child with birth defects due to advances in medicine.
- Cites epstein cj, beaudet al, sly ws, valle d, eds. the metabolic and molecular bases of inherited disease.
- Explains that tolmie jl. down syndrome and other autosomal trisomies. in emery and rimoin's principles and practice of medical genetics.
- Cites saenz rb, hook eb, wald nj, thompson sg, and cuckle hs. estimating a woman's risk of pregnancy associated with down syndrome using her age and serum alpha-fetoprotein level.
- Explains the association between low maternal serum alpha-fetoprotein and fetal chromosome abnormalities.
- Describes the clinical aspects of maternal serum screening for down syndrome in the united states.
- Explains haddow je, palomaki ge, knight gj, cunningham gc, lustig ls, boyd pa. reducing the need for amniocentesis in women 35 years of age or older.
- Describes the acmg position statement on multiple marker screening in women 35 and older.
- Explains the american college of medical genetics clinical practice committee's statement on multiple marker screening in pregnant women.
- Explains the american college of obstetricians and gynecologists' maternal serum screening.
2069 wordsRead More - Facts on Down Syndromeexplanatory essayThe presence of an extra chromosome is prevalent in plants but rare in animals. Diploid human cells contain 46 chromosomes, 44 autosomes and two sex chromosomes namely XX in females and XY in males. At mitotic metaphase, each of the chromosomes can be recognized by its size, shape and banding pattern. However, there could be non-disjunction of chromosomes during the process of meiosis, and as a result, one of the cells may receive an extra copy of the chromosome resulting in a condition called trisomy. One of the most common chromosome abnormality in humans is Down Syndrome, a condition associated with an extra chromosome 21. This condition was first described by British physician, Langdon Down (Web. Down Syndrome, n.d.).
In this essay, the author
- Explains that the presence of an extra chromosome is prevalent in plants but rare in animals.
- Explains that individuals with down syndrome are shorter in stature, have shorter necks, loose-jointed ankles and have broader skulls. they also have impaired mental abilities and require special training and care.
- Explains that down syndrome is a birth defect influenced by the age of the mother.
- Explains that down syndrome is one of the most prevalent chromosomal conditions. it was 15 per 10,000 births in 2004-2006.
- Explains that there is a 71 percent increase in the cases of down syndrome. women are more career-oriented and start families later in life.
- Explains that trisomy 21 is a result of chromosome non-disjunction in one of the meiotic cell divisions. congenital birth defects are difficult to treat but with the prevalence of down syndrome, numerous research projects are being carried out.
- Explains that certain cerebellar neurons are targeted to regulate the development of brain activity. the compound sag is used in the study.
- Explains that lc neurons are the chief site responsible for the neurotransmitter molecule norepinephrine synthesis.
- Explains that optogenetics is associated with the neural action control, and array tomography is based on anatomy and expression of proteins in brain, are exploited to investigate neurobiological utility, methods, actions and therapeutics.
- Explains that the project involves abnormal characteristics associated with sleep and brain rhythms. the motive is to understand if normal sleep pattern could enhance learning and memory.
- Explains that drug discovery- pentylenetetrazol or ptz minimizes inhibition present in neural connections and aids in re-establishing cognitive roles.
- Opines that there is still a long way to go for establishing the therapeutics of down syndrome and eliminating the associated predicaments.
- Explains that down syndrome is a genetic disorder caused by the autosomal non-disjunction of the 21 chromosome resulting in the condition called trisomy.
- Explains that the project balancing excitation and inhibition explores neural circuits responsible for memory and learning of the individual, using excitatory and inhibitory inputs. roche initiated phase-i clinical trials for a drug to deal with behavioral and cognitive discrepancies related to down syndrome.
1150 wordsRead More