Genetic Disorders and Down Syndrome Essay - 969 Words

A genetic disorder is a disease that is caused by an abnormality in an individuals DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes† (Letsou). Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. 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†¦show more content†¦Unlike many other syndromes those affected by Fragile X are expected to have an average life span and have fewer health problems. Down syndrome, also known as trisomy 21, or trisomy G is one syndrome that has many characteristics. In 1866 â€Å"English doctor, John Langdon Down published a description of the condition† (Downs Syndrome Association). According to Genetics Home Reference, Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone in infancy. Down syndrome is caused by an extra copy of the 21st chromosome. Unlike Fragile X syndrome, Down syndrome is most commonly detected by the appearance of the individual. Approximately 15% of people with Down syndrome â€Å"have an underactive thyroid gland. The thyroid gland is a butterfly-shaped organ in the lower n eck that produces hormones. Some of the problems these individuals may have are heart defects, infections, hypothyroidism, blood disorders, vision problems, Alzheimer’s, and a few other problems† (Associated Conditions). However, not every individual that have Down syndrome are faced with these health problems. In most cases, Down syndrome babies are born to women who are much older when they give birth. People with DownShow MoreRelatedDown Syndrome : A Genetic Disorder1443 Words   |  6 PagesDown syndrome is a genetic disorder that affects a person’s facial features and intelligence. Down syndrome is also commonly known as Down’s syndrome, Trisomy 21, Trisomy G, 47,XX,+21, or 47,XY,+21. In 1866, English physician John Langdon Down is known as the â€Å"father† of Down syndrome. He was given that title for his publication of an accurate description of a person with Down syndrome, hence the reason why the disorder was named after him; although, this disorder was known as â€Å"Mongolism† until theRead MoreThe Genetic Disorder of Down Syndrome1238 Words   |  5 Pagesâ€Å"Noo Why my baby,† this mother has just been given the news that her child has been diagnosed with Down Syndrome. Her child was one of many who will have trouble reading out loud or to even communicate. Who will grow up with not knowing if today will be a good day or not. Down Syndrome is just one case of genetic disorder. There are so many all over in the world and many doctors still don’t even know what to call them. Some don’t even know they have a disease in them till its too late, or otherRead MoreDown Syndrome : Genetic Disorder1293 Words   |  6 PagesDown syndrome is a genetic disorder that begins to develop at the cellular level after conception. All the cells in the human body contain a center, called a nucleus, in which genetic code of each human being is stored. This genetic material, known as genes, carries the codes responsible for all our inherited characteristics from the mother and the father. Genes are grouped along rod-like structures called chromosomes. The nucleus of each cell normally contains 23 pairs of chromosomes, half of whichRead MoreIs Down Syndrome A Genetic Disorder?1768 Words   |  8 PagesDown syndrome is a genetic disorder that is common by birth defect due to having an extra chromosome of 21. Down syndr ome causes delay in their development and some level of learning difficulty and has a characteristic facial appearance, and speech complexity. The aim of a person having Down syndrome is to help manage their lifestyles. However managing a person with Down syndrome lifestyle and living to the fullest is absolutely challenging, it will take time, hard work and financial means to makeRead MoreDown Syndrome : Genetic Disorder And The Most Common Autosomal Chromosome Abnormality Essay900 Words   |  4 Pages Down Syndrome Introduction Down syndrome is a genetic disorder and the most common autosomal chromosome abnormality in humans. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. 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Now I’m going to introduce the human genomeRead MoreThe Genetic Disease Of Down Syndrome1484 Words   |  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 MoreEssay DiGeorge Syndrome- A Genetic Disorder952 Words   |  4 Pages A genetic disorder, such as DiGeorge syndrome, is an illness caused by one or more abnormalities, which can be passed down through parents, DNA, or mutations. DiGeorge syndrome (DGS) is a rare type of a genetic disorder which is caused by the deletion of chromosome 22. 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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