Thursday, January 9, 2020
The Discovery Of Down Syndrome - 874 Words
Down syndrome is a common disorder where the child gets an extra copy of the 21st chromosome. It happens in every 691 babies born in the United States. This adds up to about 6,000 babies born with the disorder a year. The major points in this paper are: when the disorder was discovered, the symptoms, the lifespan, the medical treatments, if it is a dominant trait, what chromosome is affected, and how it is passed down to offspring. The discovery of Down syndrome was by an English physician named of John Langdon Down. He published a description of a person with Down syndrome in 1866, and that earned him the title of ââ¬Å"The Father of Down syndrome.â⬠In 1959 a French physician Jerome Lejeune discovered that the syndrome was actually a chromosomal condition. He discovered that instead of the normal 46 chromosomes, Down syndrome patients have 47 with an extra copy of 21. In 2000, a global team of scientists identified and catalogued each of the 329 genes on chromosome 21. With a ll this new information scientists made large advancements in Down syndrome research. There are many symptoms of Down syndrome. The symptoms that one can see are: low muscle tone, smaller stature, an upward slant to the eyes, and a single deep crease across the center of the palm. Down syndrome babies can be born normal size, but development is twice as slow as a non-Downââ¬â¢s child. The mental side effects are: impulsive behavior, poor judgment, short attention span, and slow learning capabilities. TheShow MoreRelatedGenetic Disorders and Down Syndrome Essay969 Words à |à 4 Pagesretardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes. Discovered in 1991, Fragile X syndrome is considered a fairly new genetic disorder. According to The Fragile X Association, Fragile X Syndrome (FXS) is caused by the expansion or lengthening of the FMR1 gene on the X chromosome, known as a gene mutation. Fragile X occurs more in males than females. ââ¬Å"Fragile X syndrome occurs in approximatelyRead MoreDown Syndrome And The Human Body916 Words à |à 4 PagesWe all love amazing smiles and infectious eyes and hugs. Down syndrome occurs in people of all races and economic levels. Who are we to judge when we all bleed the same blood. Down syndrome is only a part of them and not how they are defined. No one is greater than another no matter what the situation. In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structuresRead MoreGeneral Information On Down Syndrome Essay814 Words à |à 4 Pa gesDown syndrome is a genetic disorder most commonly caused by extra copies of chromosome 21. It occurs randomly during cell division in fetal development. This paper will discuss general information on Down syndrome, which will include the discovery of syndrome, the types and causes, the risk factors. Furthermore, this paper will also discuss the sign and symptoms, diagnosis and treatment. General background Down syndrome is a genetic disorder occurs in every individual regardless of gender, ethnicityRead MoreDeoxyribonucleic Acid, Or Dna Is A Genetic Code That Determines1279 Words à |à 6 Pagesof the offspring. It is information passed down from generation to generation and makes the human race unique. Without unique DNA, the human race could become extinct in an instant. The discovery of the double helix structure of DNA was discovered by mainly by James Watson and Francis Crick. They basically solved the structure of DNA. This discovery marked a milestone in the history of science and gave rise to modern molecular biology. Their discovery yielded ground-breaking insights into theRead MoreIdiot Savant : Blessing Or Curse?1504 Words à |à 7 PagesDictionary, idiot savant is a rare condition where a person who is considered to be mentally disable, displays brilliance in a specific area. Idiot savant was first coined and discovered by Dr. J. Langdon Down in 1887. Dr. Down is best known for his description of the disorder called Down syndrome. In French, idiot savant means learned idiot. Idiot savant can be hereditary or caused by damage to the left hemisphere of the brain resulting in spectacular abilities. This paper will discuss the significanceRead MoreThe Genetic Disorder Of Trisomy 211481 Words à |à 6 Pagesgenetic disorder of Trisomy 21, or Down syndrome is one that has often interested me. I understand that many children born with his genetic disorder can in fact live a full life, often with assistance. When answering the question of what exactly Down syndrome is, a good definition can be one describing this disorder as a genetic condition where a person has an extra 21st chromosome. The typical person has 46 chromosomes, therefore the person born with Down syndrome has 47. This extra chromosome bringsRead MoreFacts on Down Syndrome Essays1152 Words à |à 5 Pagescells 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.). Symptoms Individuals with Down Syndrome are generally shorter in stature, have shorter necks, have loose-jointed ankles, have broader skulls, wider nostrils, large tongues with a distinctiveRead MoreThe Genetic Disease Of Down Syndrome1484 Words à |à 6 PagesScenario Paper: Down Syndrome; Trisomy 21 Michelle Bosserman National University Professor Joan Horvath BIS 405 March 14, 201 Abstract In this paper, the author will analyze the genetic disease of Down syndrome. The author will give a definition of this genetic disorder, and explain some of the characteristics associated. The author will then discuss its scientific causes, and detail both prenatal and birth testing methods availableRead MoreDown Syndrome Essay1515 Words à |à 7 PagesDown Syndrome Downs Syndrome, it is one of the most frequently occurring chromosomal abnormalities found in humans effecting people of all ages, races and economic levels. It is a chromosomal anomaly in cell development that results in a person being born with forty-seven chromosomes instead of the normal forty-six chromosomes. People with Down syndrome may have mild to severe learning disabilities and physical symptoms, which include a small skull, extra folds of skin under the eyes, andRead MoreCorrelation Between Type Of Mecp2 Mutation And The Degree Of Phenotypic Severity1169 Words à |à 5 Pagescan be spliced in two ways generating two different isoforms; MECP2E1 and MECP2E2 that differ in their N terminus. Exon 1 of the MECP2E1 isoform has historically not been sequenced due to the misconception that is was a non-coding exon. Since the discovery of the MECP2E1 isoform it has been included in genetic sequencing and a number of mutations identified in exon 1 have been linked to RTT. It has been suggested that those who have a mutation in exon 1 exhibit a more severe set of symptoms than those
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