Down Syndrome Trisomy 21

Decent Essays
Down syndrome or trisomy 21 is caused by having an extra copy of chromosome 21 and it is a developmental disorder which means having three copies of each genes rather than two, this extra copy changes several characteristics and leads to physical and mental issues for the child. Anyway, what are the signs and symptoms of Down syndrome?
Different complications at different times of lives may happen to people with Down syndrome as well as the signs of Down syndrome can vary from one person to other. However, the patients of Down syndrome have a specific and obvious facial and body feature that include:
• Poor and weak muscle tone
• short neck with surplus skin at the back of the neck
• flatten face and small extensive nose
• Small head, ears

Related Documents

  • Improved Essays

    Trisomy 21 Research Paper

    • 1600 Words
    • 7 Pages

    Describe trisomy 21. Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21.…

    • 1600 Words
    • 7 Pages
    Improved Essays
  • Improved Essays

    Trisomy 18 Research Paper

    • 207 Words
    • 1 Pages

    I thoroughly enjoyed your ability to look outside the box for any and all potential diagnoses on this discussion post. Trisomy 18 also known as Edwards syndrome is one potential diagnosis for the child and is one that I had not heard of. When these babies are born they immediately are taken to the intensive care unit (“What is Trisomy,” n.d.). This condition is thought to be very life threatening and only, “10 percent or more may survive to their first birthdays” (“What is Trisomy,” n.d.). In order to diagnose this condition, “a sample of the baby’s DNA is extracted from a blood sample or other bodily cells or tissue and is cultured to examine a picture of the chromosomes called a karyotype” (“What is Trisomy,” n.d.).…

    • 207 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    For this assignment, I chose Trisomy 13, also known as Patau Syndrome, and consulted WebMD and the U.S. National Library of Medicine for information concerning the occurrence and symptoms of the disorder. Trisomy 13 is a genetic disorder that results when nondisjunction occurs during the process of meiosis, and causes three copies of the Chromosome 13 to be present in the cells of an individual, rather than the usual two copies. As with any chromosomal abnormality, the risks of an infant having Trisomy 13 significantly increases when the age of the mother is greater than thirty-five. Surgeries and therapy can help to lessen some of the severe symptoms suffered by individuals with Trisomy 13, however there is no cure. Trisomy 13 occurs in approximately…

    • 197 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    Tay-Sachs disease is a genetic disorder that affects nerve cells in the brain and spinal cord. This condition is caused by mutations in a gene called hexosaminidase subunit alpha(HEXA). The HEXA is a gene that provides instructions for making beta-hexosaminidase that makes a functional enzyme with one alpha subunit. Beta-hexosaminidase is an enzyme that is located in lysosomes, is an important enzyme that breaks down a GM2 ganglioside. Therefore, the lack of the beta-hexosaminidase enzyme results in the accumulation of the GM2 ganglioside in the brain and spinal cord that damages nerve cells.…

    • 216 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    In infancy and early childhood, growth retardation and obesity are prevelant as well. The Central Nervous System is affected as well. At birth, hypotonia is developed and also, people with Down Syndrome are more likely to develop Alzheimer Disease. Developmental and mental retardation take form and they experience a decrease in cognitive function, as well as tending to have a decreased sensitivity to pain. Lastly, the immune system is affected and sometimes compromised Infants with Down Syndrome are 20% more likely to develop Leukemia.…

    • 954 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Trisomy 18: A Case Study

    • 585 Words
    • 3 Pages

    Imagine living with a disorder and knowing that because of it you will not live to thirty years of age. This is the case for people with Trisomy18 most of the people with this genetic disorder will live to twenty if they are lucky. Trisomy18 is when a baby is still inside the mother's stomach and when developing the baby's cells do not divide correctly which causes cardiac, or heart, lung, and whole body problems to appear. Trisomy18 is caused when chromosome 18 has three chromosomes instead of the two it is suppose too have. The symptoms of this disorder may include clenched hands, crossed legs, rocker bottom feet; or rounded feet, a low birth weight, low set ears.…

    • 585 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Edwards syndrome also known as Trisomy 18 occurs in about 1 out of every 2500 pregnancies in the United States alone. This genetic diseases causes severe development delays due to an extra chromosome. Down syndrome is also caused because of an extra chromosome, however the difference between these two is that Edwards syndrome deals with more medical complications and has a higher risk factor on the early months and years of life. It usually occurs during the sperm and egg formation. The disease is rarely inherited and the parents are not at fault for their child obtaining the disease.…

    • 653 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Children born with this condition usually have droopy eyelids, upward fold of eyelid skin near the inner corner, horizontally narrow eyelids,…

    • 438 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    People with Trisomy 18, often have slow growth in the wound (intrauterine growth retardation). These newborns usually have heart defects and other defects throughout the child’s body. This also includes a small shaped head, a small mouth and jaw, and sometimes overlapping fingers and small hands. Children with Trisomy 18 usually die within their first month, or before birth. Children that do have this syndrome and make it through their first month, usually live for a year and die.…

    • 768 Words
    • 4 Pages
    Improved Essays
  • Brilliant Essays

    Patient Demographics

    • 1847 Words
    • 8 Pages

    Down Syndrome is a common chromosomal translation and “approximately 1 in 660 births” are affected by the “trisomy of chromosome 21”. Classic features include “facial characteristics of upward slanted palpebral fissures, epicanthic folds, and a rounded, flattened face”. Children with this diagnosis often have “a palmar transverse crease, hypotonia, and mental retardation with a mean IQ of 50.2” (2) Patient was diagnosed with Moya Moya disease at age 7. Moya-Moya disease is a rare arterial occlusive disease. It affects the internal carotid artery and its branches and may lead to severe clinical presentations such as stroke and intracranial hemorrhage.…

    • 1847 Words
    • 8 Pages
    Brilliant Essays
  • Improved Essays

    Aside from the down syndrome that has already been diagnosed, the patient’s symptoms also hint that he may have damage to Broca’s Area also known as nonfluent aphasia (Plante, 237). This area has been associated with the processes for expressive language or the ability to speak fluidly (motor skills) (Plante, 236 &237). Since the patient does not seem to show any difficulties with speech/language comprehension, Wernicke's aphasia is not a feasible diagnosis. In the case of this boy’s hearing loss in the right ear, this may simply be a result of his down syndrome. Down syndrome or Trisomy 21 is a genetic disorder in which there are structural changes to chromosome 21 causing the individual to suffer from developmental and intellectual delays.…

    • 150 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    Fragile X syndrome is an intellectual genetic disability that causes behaviour problems, learning difficulties and various physical characteristics. Fragile X syndrome is the most commonly inherited intellectual disability and the most common cause of autism. The degree in which the disease affects people varies from mild learning difficulties through to severe intellectual impairment. This genetic disability is caused when the gene that normally produces a certain protein that helps with brain development is changed.…

    • 2007 Words
    • 9 Pages
    Improved Essays
  • Improved Essays

    There is a majority of people who kill babies because of disability problems. Taking away the lives of humans due to disorders they may have is such a harsh, heartless and unsympathetic action. Everyone should be given the opportunity to live. Babies with Down syndrome are born with an extra chromosome 21, leaving them with mental and physical issues. They may be different from other kids and it occurs in any race.…

    • 521 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Fragile X Syndrome

    • 695 Words
    • 3 Pages

    Short attention span, poor eye contact, delayed speech and learning disabilities, emotional instability. Every child with Fragile X syndrome have common physical appearances which include: large ears, speech impairment, anxiety, double jointed, enlarged head, enlarged testicles, flat feet, lazy eye, long thin face, prominent jaw, and scoliosis, single line on palm, sunken chest, or tremor. These are the most common characteristics and symptoms that can be told from fragile X syndrome. Other behavior characteristics include some from the disease from autism. Fragile x syndrome is a gentic inherited disease, which affects all racial groups, and all ethnic groups.…

    • 695 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Physical Therapy has been playing a role in most people's life for as long as they can remember. From teaching children how to walk, to teaching the elderly too. Physical therapy has helped people in many ways, from injured people who need to relearn everything to helping children who have Down Syndrome learn everything. Physical therapy is a major part of a lot of people’s life and you may not even know it.…

    • 1009 Words
    • 5 Pages
    Improved Essays