Down Syndrome Genetic Disorder And The Most Common...

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. This additional genetic material alters of development and causes the characteristics associated with Down syndrome. The primary purposes of this article are to: establish the origin of the term Down syndrome; determine the possible causes of Down syndrome; Likelihood of having a child with Down syndrome; and treatments for humans diagnosed with Down syndrome. The Origins of the Term Down Syndrome In 1866, a British physician, John Langdon Down, for whom the syndrome is named, first described Down Syndrome, as ?Mongolism.? Down was a superintendent of an asylum for children with mental retardation. He observed a set of children with common features who were distinct from children with mental retardation. The term Down Syndrome didn?t become the accepted term until the early 1970s. More was learned about the condition in 1959, when French Pediatrician/Geneticist Profess Jerome Lejeune discovered that individual with Down syndrome had an extra chromosome. Shortly thereafter, chromosome studies were developed to confirm the diagnosis of Down syndrome (Wright, 2011). What is Down Syndrome In every cell in the human body there is a nucleus, where genetic materials are stored in genes. Genes carry the code responsible forShow MoreRelatedCongenital hearing loss is described as hearing loss that exists at birth. Factors responsible for1200 Words   |  5 Pagesmalformations of the external ear or other organs or with medical problems involving other organ systems) or nonsyndromic (no associated visible abnormalities of the external ear or any related medical problems)†¦Ã¢â‚¬  Over 400 genetic syndromes are associated with congenital hearing loss. These include Treacher Collins, an autosomal dominant disorder and Down syndrome, an x-linked hearing loss. Although congenital hearing loss can be difficult to live with, hearing aids, surgery, and therapy are all availableRead MoreApproximately three to four percent of babies born every year are born with some kind of genetic700 Words   |  3 Pagesevery year are born with some kind of genetic di sorder. A genetic disorder is described as an illness caused by an error in one’s genome, and is usually hereditary. To understand how these errors occur, one must first understand the basic concept of genes. Genes are the basic units of heredity and are made up of pieces of DNA that instruct the cell how to make specific proteins. Humans are estimated to have about 20,000 to 30,000 genes in their genome. Chromosomes contain these genes and DNA. HumansRead MoreA Study On Turner Syndrome1724 Words   |  7 Pages Turner syndrome, also known as Monosomy X, is caused by the deletion of the second X chromosome in females. This can be a partial deletion or a complete deletion. It is caused by a random error called nondisjunction, which is â€Å"the failure of sister chromatids to separate during or after meiosis† (Biology Online, 2008). This can lead to an abnormal amount of chromosomes. In this case, it leads to an abnormality in the sex chromosomes leaving the woman with one functioning X chromosome. While theRead MoreFactors Affecting Human Development During Phases Of Meiosis And Mitosis2070 Words   |  9 Pagesresults in an abnormal amount of chromosomes in the produced cells and causes alterations in those who are affected. Nondisjunctional consequences can be seen in these five examples of genetic inheritance conditions discussed in this paper: Down syndrome, Patau’s syndrome, Edward’s syndrome, Klinefelter syndrome, and Turner’s syndrome. The Mendelian principles of genetics developed by Gregor Mendel include the patterns of autosomal recessive and autosomal dominant. Autosomal dominant and recessive inheritanceRead MoreEssay about Down Syndrome941 Words   |  4 Pagestheir child has a genetic disorder called Down Syndrome (â€Å"National Down Syndrome Society,† n.d.). Within a matter of minutes parents learn that children with Down Syndrome can also have a variety of other conditions and disorders, will not d evelop in the same way that other children do, and may even have a shorter life span. However, children with Down Syndrome are happy-go-lucky children with a kind disposition and a wonderful personality. Also known as Trisomy 21, Down Syndrome does not mean theRead MoreThe Genetic Disorder Or Autoimmune Disease? How Was It Discovered?2274 Words   |  10 Pagesthe genetic disorder or autoimmune disease? How was it discovered? Answer: In 1866, Doctor John Langdon Down. He first described Down syndrome as a disorder, but he misunderstood how Down syndrome arises. The cause of Down syndrome was rather recently discovered in 1959. Down syndrome is a genetic disorder and most common cause of cognitive impairments. B. Is the disease state recessive or dominant? Explain your answer. Answer: The disease isn’t a disease, it is considered a disorder. ThisRead MoreHistory of the Patau Syndrome1850 Words   |  7 PagesPatau Syndrome, otherwise known as T13 is a very rare and lethal genetic disorder in which a person has three copies of chromosome 13 instead of two. T13 is characterized by the presence of an assortment of heart and brain malformation in newborns. Children with the disease are often born with multiple birth defects that are normally associated with T13 but not limited to it, including small eyes, undescended testicles, cleft lip/palate, and they consistently exhibit signs of mental deficiency and/orRead MoreHomeobox Gene Essay1750 Words   |  7 Pagesfingernails and toenails. Most of MSX1 mutation is heterozygous. MSX1 is a muscle segment homeobox gene 1 is also known as Hox7. It is expressed in segmented striated muscles and the central nervous system. It is one of non-clustered homeobox gene, which showed an important role in the embryonic development of Drosophila. The murine homologue of Hox-7 was identified and mapped to mouse chromosome 5(2). However, human MSX1 is located in the short arm of the chromosome 4 at 16.2 position and consistsRead MoreMSX1 Case Study1622 Words   |  7 Pages The murine homologue of Hox-7 was identified and mapped to mouse chromosome 5(1). However human MSX1 is located in chromosome 4 short arm position 16.2 and consists of two exons 704 bp and 1236 bp, separated via a 2332-bp intron.(2) Both murine and human hox7 are highly homologous, have around 90% identical DNA. Hox7 encodes two potential in-frame translation start sites. The 5’ HOX7 gene is very GC-rich(1). MSX1 takes most of its expression in mesenchyme(3). Msx1 also contributes to cell proliferationRead MoreMaternal Age and Down Syndrome Essay2060 Words   |  9 PagesThe Influence of Maternal Age on Down syndrome Children born to older parents are at greater risk for genetic abnormalities, such as Down syndrome. No one knows what causes the chromosomal abnormality that results in Down syndrome, a condition according to the National Association for Down syndrome, affects one in 800 to 1,000 babies in the United States. Any woman regardless of her culture, race and socio-economic status can have a baby with Down syndrome. However, a mother’ age seems to be a