Turner Syndrome Essay

Great Essays
Register to read the introduction… Turner Syndrome is caused by a partial or complete lack of a single X chromosome. The chromosome could be missing in either all cells, partially there in all cells, or partially there in some cells. It should generally be easy to diagnose, often before birth or a few years later. Some signs of Turner Syndrome may be frequent ear infections and short stature, which should cause a doctor to want to do tests to check. However, many times these symptoms are overlooked even though the syndrome is fairly easy to detect and the symptoms are quite obvious. Turner Syndrome can cause quite a few medical complications such as infertility, two components instead of three in the aortic valve, short stature, cardio-vascular diseases, lack of visual spatial skills, short attention spans, memory loss, Type II Diabetes, hyperthyroidism, learning disabilities, and a higher chance of developing Celiac disease because of a more toxic reaction to gluten. Many affected by Turner Syndrome are uneducated and unaware of their symptoms, so many have low self esteem, depression, and psychological issues (Turner Syndrome Society, …show more content…
Although it is a recessive trait, it still occurs quite frequently. It is still very possible to suffer from Cystic Fibrosis, especially if both of the families of the parents of the offspring have anyone in the lineage with Cystic Fibrosis. Cystic Fibrosis causes excessive mucus that is unusually thick and sticky. The mucus that lines the lungs also is affected, and the thick mucus can lead to lung infections. This mucus also may cause the pancreas to be obstructed, causing it to no longer be able to release enzymes for digestion. Symptoms and signs of cystic fibrosis are or may include: salty tasting skin, excessive coughing, lung infections, shortness of breath, poor growth, and lack of weight gain. Cystic Fibrosis affects about 70,000 people worldwide, 30,000 of which live in the United States. Around 1950, many people that were diagnosed with Cystic Fibrosis barely lived past elementary school. Now, many people are living past the age of forty. About 1,000 patients are diagnosed each year, and seventy percent are diagnosed before their second birthday. Over forty-five percent of people that have been diagnosed are legal adults, and they are predicted to live until they are about forty years of age (American Lung Association, …show more content…
The person could have an extra chromosome (Klinefelter syndrome, Trisomy X, Down syndrome, etc.) or they lack a chromosome (Turner syndrome). Aneuploids are believed to be the result of some form of error that occurs during meiosis. This error generally causes a chromosome not to separate, which is called a nondisjunction. Gametes that have extra chromosomes unite with regular chromosome which results in a trisomy. A trisomy chromosome is one that, instead of being diploid, has three chromosomes. If a gamete lacks a chromosome and it bonds with a regular gamete, the result will be a monosomy. A monosomy is when all chromosomes are diploid except one that is singular. Other chromosomes could be added or missing in an aneuploidy, but these are very rare. Many times, aneuploids are lethal in humans and animals, and trisomy or monosomy conditions occur only within a small number of chromosomes (Bob Jones University,

Related Documents

  • Great Essays

    Introduction The genetic autosomal recessive disorder known as Cystic Fibrosis (CF) effects on average 1 of 28 Caucasians. The average age for patients to be diagnosed with this genetic disorder is around 2 weeks and 2 years old, there are some cases where they are find out sooner and others when they are adults. CF affect the patient’s chloride channels which causes the mucus in their lungs to thicken and pool. It can also affect the pancreas by blocking it up and not allowing it to produce digestive enzymes.…

    • 1413 Words
    • 6 Pages
    Great Essays
  • Decent Essays

    Website: http://www.wsvn.com/story/26299941/camps-take-cystic-fibrosis-patients-surfing Cystic fibrosis (CF) is a genetic-disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and continues throughout other areas of the body. Cystic fibrosis has signs and symptoms that differs, depending on how bad the disease affects someone. Cystic fibrosis varies through ages, it affects infants, teenagers, and young adults, but is mostly found in white people.…

    • 378 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Cystic Fibrosis Part 1 Jenna Saline Kaplan University Cystic Fibrosis is a genetic condition that has an affect on many organs of the patient. This disease will ultimately lead to fatal impairment of the lungs. It is most common to see Cystic Fibrosis diagnosed from early childhood to young teens. Cystic Fibrosis is an autosomal recessive disorder in which both gene alleles must be mutated for the disease to be expressed (Ignatavicius and Workman, 2013). As every person is unique, the severity of the effects from CF will vary from person to person.…

    • 657 Words
    • 3 Pages
    Improved Essays
  • Great Essays

    Cystic Fibrosis Case Study

    • 1283 Words
    • 6 Pages

    Cystic fibrosis (CF), is a disease that is inherited, or passed down through genes from parents to offspring. This disease affects the secretory glands, including the glands that produce mucus and sweat. People with CF have inherited two faulty CF genes, one from each parent. Parents, likely don 't have the disease. CF affects many body organs but mostly the lungs, pancreas, liver, intestines, sinuses, and sex organs (What Is Cystic Fibrosis?, 2013).…

    • 1283 Words
    • 6 Pages
    Great Essays
  • Improved Essays

    Genetic Disorder Paper Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time (cystic fibrosis foundation). It is a decease in the secretory glands, the glands that make mucus and sweat (medicine). It causes the cells in those parts to not function correctly and when needed to produce fluids, produce thick, sticky mucus in the lungs, pancreas and other organs (cystic fibrosis foundation). It builds up and blocks tubes and airways making it harder to breathe.…

    • 614 Words
    • 3 Pages
    Improved Essays
  • Decent Essays

    Cystic Fibrosis According to WebMD “More than 30,000 people in the U.S live with cystic fibrosis (CF) and doctors diagnose about 1,000 new cases each year.” CF affects some cells in your body that can make mucus and digestive fluids in your body. These fluids are normally thin and slippery, but CF can make them thick and sticky causing it to block the tubes and ducts throughout the body. After some time mucus builds up and makes breathing harder and since the mucus traps germs, it can lead to infection, it can also cause lung damage such as cysts and fibrosis.…

    • 322 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Cystic Fibrosis Presentation Cystic fibrosis is genetic disorder. It is an inherited disorder that can result in a severe damage to the respiratory and digestive systems. This disorder can affect the lungs, pancreas, intestines, liver and even the sex organs. Cystic fibrosis builds up a thick and sticky mucus in the lungs and other respiratory and digestive organs in our body. For an infant to be at risk of developing Cystic Fibrosis, both parents must pass on the abnormal gene to the infant.…

    • 905 Words
    • 4 Pages
    Improved Essays
  • Decent Essays

    Cystic Fibrosis was first discovered in 1938 by Dr. Dorothy Hansine Andersen, she described the characteristics of the disease of the pancreas, lungs, and other organs, but this was not much information to go on from. She later discovered more information on Cystic Fibrosis in 1949, she found out it was caused by a recessive mutant gene. Cystic Fibrosis(CF) is a thick and sticky mucus that clogs the airways, making it hard to breathe and causing damage. It is caused by a defect in a gene that changes a specific protein that regulates the movement of salt in and out of cells at birth. In order for someone to be diagnosed with CF, the child would need to get one copy of the gene from both parents.…

    • 523 Words
    • 3 Pages
    Decent Essays
  • Improved Essays

    Essay On Cystic Fibrosis

    • 399 Words
    • 2 Pages

    Can you imagine having your lungs fill up with a sticky substance so its hard to breathe? This is what happens to patients with Cystic Fibrosis or CF. Along with the lungs CF affects the pancreas, digestive system, and other organs of the body. In normal lungs the mucus is thin and helps coat and protect the airways making it a lot easier to breathe. In Cystic Fibrosis the mucus that acts like a lubricant in and on our organs turns very thick and sticky.…

    • 399 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Cystic Fibrosis is a genetic disorder that occurs mostly in the lungs but is also known to affect the pancreas, kidneys, liver, and intestine (the digestive system). Cystic Fibrosis occurs when neither of a person’s alleles are able to produce the Cystic Fibrosis Transmembrane Conductance Regulator gene, CFTR. This gene is a key component to creating sweat, digestive juices, and mucus in the human body. Cystic Fibrosis has several symptoms, treatments, and impacts on the lives of those who are diagnosed. As said before, CF has many known symptoms such as salty tasting skin, thick mucus accumulation, poor growth and weight, frequent chest infections, etc.…

    • 345 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Cystic Fibrosis are known to be a recessive disorder, meaning that both parents must a carrier of the gene in order to pass on the defective gene to any of their children in order to get the disease. If the faulty gene is inherited by one of the children, he or she will also be a carrier of the gene. Being a carrier of the disease will not affect the carrier, but the gene can be passed down to their children. This essay will address the biological basis and symptoms of Cystic Fibrosis, the treatments and/or management of this disease, and the issues, controversies regarding genetic screening. (University of Utah | Health Sciences, 2015) 1.…

    • 836 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Cystic fibrosis (CF) is a lifelong, hereditary disease that causes thick, sticky mucus to form in the airways, causing lung damage, making it hard to breathe, and leading to serious lung infections. In the pancreas, it clogs the pathway leading to the digestive system, interfering with proper…

    • 1065 Words
    • 5 Pages
    Improved Essays
  • Superior Essays

    Cystic fibrosis is a disease caused by a gene mutation, changing a protein that regulates the movement of salt in and out of cells. This results in a thick, sticky mucus that affects the respiratory, digestive and reproductive system, as well as the increased salt in sweat that had been noticed in history. It was not until 1938 that the first reference to cystic fibrosis was seen in medical literature. The pathologist Dr. Dorothy Anderson describing the disease “cystic fibrosis of the pancreas”, based on autopsy findings on children who had died from malnutrition (Nick, 2012). The purpose of this paper is to explore the disease of cystic fibrosis; it’s etiology, pathophysiology and symptoms,…

    • 1662 Words
    • 7 Pages
    Superior Essays
  • Great Essays

    It is very common in our society with 1200 of the 70,000 affected worldwide living in Ireland (Cystic Fibrosis Ireland, 2014). CF causes the body to produce thick sticky mucus that blocks the lungs and causes lung infections. CF also stops the body for producing pancreatic enzymes which are necessary for breaking down and absorbing food. There are various symptoms of CF including, salty skin, persistent coughing often with phlegm, lung infections, shortness of breath, poor growth and weight gain and heavy stools or difficulty with bowel movements (Cystic Fibrosis Ireland, 2014). CF is caused by a gene that is passed from parent to child.…

    • 2133 Words
    • 9 Pages
    Great Essays
  • Improved Essays

    Cystic fibrosis is a genetic disorder that affects many organs and impairs the lung function. A blocked chloride transport in the cell membranes creates mucous that has little water content and becomes thick. The thick, sticky mucous causes problems in the lung, pancreas, liver, salivary glands, and testes. It is an autosomal recessive trait and the cystic fibrosis gene can be located in chromosome seven. A symptom of cystic fibrosis is very salty-tasting skin and the reason is, is when a person who has cystic fibrosis has very high levels of chloride in their sweat than what a normal person would have.…

    • 436 Words
    • 2 Pages
    Improved Essays