Turner Syndrome Research Paper

Improved Essays
One very rare syndrome that affects girls and women is Turner Syndrome. Turner syndrome also known as Ullrich-Turner syndrome, gonadal digenesis, and 45,X, is a chromosomal condition that happens to girls and women. It caused because there is either a complete or partial absence of the second sex chromosome. It is known to occur when all or part of the X chromosome is lost before or soon after the time of conception. Humans have 46 chromosomes containing all of a person’s genes and DNA and they usually have 45. It is a very rare disease as it only occurs approximately 1 of every 2,000 live female births and accounts for approximately 10% of all miscarriages. It is not connected to or passed on from either parent and there is nothing a person …show more content…
Before they are born there are signs that may show Turner syndrome. For example they might have large fluid collection on the back of the neck or other abnormal fluid collections, another sigh may be heart abnormalities or abnormal kidneys. Some do not live long enough to be born and the mother usually will have a miscarriage but if they did live then they are born with some differences. For example they might have a wide or web like neck, receding or small lower jaw, low set ears, broad chest with widely spaced nipples, short fingers and toes, and the one of the most noticeable or scary symptoms is they have very swollen hands and feet. As they grow older since the syndrome can affect how a girl looks and develops some girls may have problems with body image or …show more content…
They are given growth hormone injections they are beneficial in some individual with the syndrome. The injections often begin in early childhood and may increase final adult height by a few inches. There is also estrogen replacement therapy that is usually stared at the time of normal puberty so about the time they are 12 years old. Estrogen and progesterone are given a little later to begin a monthly period, which is necessary to keep a womb healthy. Estrogen is also given to prevent osteoporosis. They must have regular health checks to keep up with their health. There are special clinics to take care of girls and women with TS in some areas with the access to a variety of specialist. Turner syndrome is not usually inherited in

Related Documents

  • Decent Essays

    COLUMN 2: Behind Column 2

    • 571 Words
    • 3 Pages

    COLUMN 2: Behind Column 1 What causes this disorder? A chromosomal mutation called translocation. Translocation is when the chromosome breaks and a portion of that chromosome reattaches to another chromosome. This chromosome that is affected by this is the 8 and 14 chromosome pair.…

    • 571 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    Treacher Collins is a genetic disease that is passed through either a mutation happening when the DNA is being split or one of the parents has the gene in their DNA. There is no cure for Treacher Collins right now. Treacher Collins affects the cranial aspect of the upper body. In some extreme cases, breathing and eating ways are affected so much that the child has to have a trach put in to help it breath normally. A feeding tube is put in so the child can get the nutrients and substance that it needs to live.…

    • 1043 Words
    • 5 Pages
    Improved Essays
  • Great Essays

    Some patients have a genetic predisposition to developing the disease. Other…

    • 1447 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    Moving up you can find vision problems (nearsightedness - in some cases extreme), crowded teeth, flat feet, and sunken or protruding chest (The Marfan Foundation). All of these have the possibility of progress into much greater problems. A sunken chest can develop to the…

    • 608 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    ichael explains his case in a creative way. He has Down syndrome when the chromosomes came to make him, a normal chromosome broke, the broken piece moved and struck onto another chromosome. Its called spontaneous translocation. No one knows why this happens or how to prevent it. He starts to talk like how he is like everyone else.…

    • 642 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the…

    • 422 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Even with the abundant amount of disabilities that come with having this disorder, the life expectancy of the affected people is almost normal. The cause of Angelman Syndrome is a genetic mutation in chromosome 15. A person without this disorder would get one gene from their mother and one gene from their father. People with Angelman Syndrome, however, only have one of those genes active in parts of the brain, meaning that gene is either severely damaged or completely missing. In some cases, the child inherits two paternal copies of that gene.…

    • 376 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    L. A Case Study

    • 740 Words
    • 3 Pages

    A twenty-two-year-old single parent, L.A., is referred for genetic counseling by her pediatric nurse practitioner. The patient's three-year-old son was diagnosed with fragile-X-associated mental retardation syndrome. L.A. is currently at fourteen weeks’ gestation with her second pregnancy. The following paper will discuss the gene mutation responsible for fragile-S associated mental retardation and describe how it causes the clinical syndrome of developmental delay, joint hyperextensibility, large testes, and facial abnormalities. This paper will also identify which parent is the probable carrier of the genetic mutation, discuss why the parent and grandparents are phenotypically unaffected and the likelihood that L.A.’s unborn child will be affected.…

    • 740 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Tay-Sachs's Disease

    • 697 Words
    • 3 Pages

    A kid can get the gene passed down to them but not necessarily have the disease. If both the parents carry the gene, then one in four children will actually have the disease. If the parents have four kids, one will have the disease, one will carry it and the other two children will have no remains…

    • 697 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    Down Syndrome How does Down Syndrome affect the one who has it and the family around them? Down syndrome is a genetic birth disorder that can cause intellectual and physical disabilities. There are three types of Down Syndrome, all of which the symptoms and physical features are similar. Although the severity can be different depending on the child. Along with these types of Down Syndrome can come various health issues.…

    • 1829 Words
    • 8 Pages
    Great Essays
  • Improved Essays

    Kennedy's Disease

    • 411 Words
    • 2 Pages

    Introduction How do you define Kennedy’s disease? Kennedy’s disease is a rare inherited disease that disturbs the males in the family by progressively weakening and wasting the motor neurons in the muscles (Kennedy's Disease Association, 2015). Kennedy’s disease got its name from the studies by Dr. William R. Kennedy who found patients with the rare disorder back in 1968, which had occurred in the later part of the adult life. Kennedy’s disease starts to appear in males between the ages of 30 to 50 years old.…

    • 411 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Fragile X syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. This condition occurs when there is a mutation of the X chromosome called FMR1. The FMR1 gene provides instruction for making protein that helps regulate production of other proteins and has a role in the development of synapses which are critical for relaying nerve impulses. Fragile X syndrome occurs in both males and females, however females have more milder symptoms. The gene can be passed down from both mother and father.…

    • 242 Words
    • 1 Pages
    Improved Essays
  • Improved Essays

    Essay On Usher Syndrome

    • 346 Words
    • 2 Pages

    You will usually get symptoms when you are around five. When you get usher syndrome it is not something that you have done, usher syndrome is usually inherited by your parents. If your parents don’t have usher syndrome then the usher syndrome was inherited by their genes. Some symptoms that you would get if you are getting usher syndrome then you will have some symptoms like it is getting hard for you to see and sometimes you won’t be able to hear at some random times.…

    • 346 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Epidemiology Of Chlamydia

    • 1451 Words
    • 6 Pages

    They are focused on the here and now. If treatment is delayed then it could impact their lives in the future. This disease could cause infertility in females, and could result in several surgical procedures. When…

    • 1451 Words
    • 6 Pages
    Improved Essays
  • Decent Essays

    Fetal Alcohol Syndrome Sandra Reynoso | MDCA 1409 | 09/19/2016 PAGE 1 Just one you might say. But did you know that just one alcoholic drink can permanently harm your unborn child. Your child might suffer from many birth defects like facial abnormalities, lower IQ, problems in their central nervous system among many others. All this can be prevented!…

    • 838 Words
    • 4 Pages
    Decent Essays