Down Syndrome is a familiar term for my family and myself since at time of birth my youngest daughter, Valentina, was diagnosed with such condition.
Down Syndrome is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities. Each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome.
A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm. One in every 691 babies in the United States is born with Down syndrome, making Down syndrome the most common genetic condition. There are three types of Down syndrome, trisomy 21, translocation and mosaicism. Trisomy 21 accounts for 95% of the cases of Down syndrome.
Typically, Down synd...
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- Down syndrome is a learning disability which results from ‘chromosomal anomaly’ this is an error in cell division that results in the existence of a third copy of chromosome 21 known as trisomy (Down syndrome Ireland, 2013). 47 chromosomes develop rather than the usual 46; the extra gene changes the orderly development of the body and brain causing the physical and learning characteristics that are associated with Down syndrome (Irish Health, 2014). It causes mild to moderate learning difficulties, it is a lifelong condition.... [tags: intellectual and learning disability]
2270 words (6.5 pages)
- As mentioned earlier, miRNAs are short, non-coding nucleic acid regulators of messengerRNA (mRNA) stability and translation that play diverse roles in development and disease. MicroRNAs are highly conserved RNAs, 18–25 nucleotides in length, that regulate gene expression. A highly conserved gene does not change from one species to another. It has the ability to remain unaltered in its genetic makeup. This generally suggests that the species are closely related. MicroRNAs are effective at adjusting or modifying proteins that are responsible for cell signaling pathways and involved in cellular and developmental processes.... [tags: DNA, Gene, RNA, Molecular biology]
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- The purpose of this paper is to understand the importance of Down syndrome, identify the characteristics, identify the populations at risk, testing methods, the prevalence and the epidemiology of down syndrome and to discuss the abortion debate that is closely related to this condition. This topic is of interest to me because I work with this population on a daily basis as an occupational therapy assistant. Down syndrome, also known as trisomy 21, is defined as a chromosomal disorder that is associated with intellectual disability.... [tags: Down syndrome, Chromosomal translocation]
1140 words (3.3 pages)
- Down syndrome is a chromosomal disorder that occurs when a baby is born with an extra chromosome in each of their cells. It is the most common of the chromosomal disorders. One in every 691 babies is born with DS (Down syndrome) and there are approximately over 400,000 people living with DS in the United States today. Although it is not genetic, it has been proven that mothers older than thirty-five are more likely to have a baby with Down syndrome. Individuals with Down syndrome have varied cognitive delays, meaning that they learn and develop slower than the average person, but they are still able to live normal lives.... [tags: Down syndrome, Chromosomal translocation]
1211 words (3.5 pages)
- Down syndrome was discovered in the 1800’s by a man named John Langton Down. Down syndrome1 is a condition that occurs in the chromosomes. The syndrome affects the intellectual ability of the person effected, their facial appearance and causes hypotonia2. Children born with this usually experience different types of birth defects. These birth defects can include heart defects and intestine blockage. People with Down syndrome are also at a high risk of developing other medical conditions. Some medical conditions include gastro esophageal reflux3, celiac disease4, hypothyroidism5, and leukemia6.... [tags: Down syndrome, Chromosome, Cancer]
1323 words (3.8 pages)
- Down syndrome is a variance in chromosome 21 that manifests with cognitive delay, muscle hypotonia, characteristic facies, and short stature. (Glanzman, 2015 & Powell-Hamilton, 2012) The genetic disorder was named after the Physician John Langdon Down, who had originally in 1866 labeled those with the genetic abnormality as “Mongoloids”; Down indicated his choice of term for the children because of their appearance was allegedly similar to those from Mongolia and at the time it was believed that those who were of Mongolian decent were to have halted development.... [tags: Down syndrome, Chromosome]
1901 words (5.4 pages)
- History: Down Syndrome was discovered in 1866 by a British physician named John Langdon Down, which is where the name Down Syndrome came from. This genetic disorder was first referred to as Mongolism. The name Down Syndrome did not start being used until the early 1970s. In 1959, a French Pediatrician/Geneticist Professor Jerome Lejeune had discovered that people with this disorder have one extra chromosome. In the 1960s when children with Down Syndrome were born, they were put into institutions right after birth.... [tags: Down syndrome, Chromosome]
1219 words (3.5 pages)
- History: Down Syndrome was discovered in 1866 by a British physician named John Langdon Down, which is where the name Down Syndrome came from. This genetic disorder was first referred to as Mongolism. The name Down Syndrome did not start being used until the early 1970s. In 1959, a French Pediatrician/Geneticist Professor Jerome Lejeune had discovered that people with this disorder have one extra chromosome. In the 1960s when children with Down Syndrome were born, they were put into institutions right after birth.... [tags: Down syndrome, Chromosomal translocation]
709 words (2 pages)
- Down syndrome is congenital condition in which there is presence of an extra 21st chromosome. In every human being there is an small yet intricate hub that holds genetic material called the nucleus. This genetic material is carried by genes and each and every one of our main characteristics or traits is grouped together next to an imperative structure called a chromosome. When an individual has an extra 21st chromosome, they experience a disorder in which the person experiences “intellectual disability, a characteristic facial appearance, and weak muscle tone (or hypotonia) in infancy.... [tags: Down syndrome, Chromosomal translocation, Gene]
1250 words (3.6 pages)
- Alzheimer and Down's Syndrome Down?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.... [tags: Down's Syndrome Trisomy 21 Mongolism]
1439 words (4.1 pages)
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