Genetic disorder

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  • Genetic Disorders: Chromosomalia

    What is Genetics? Genetic Diseases A genetic disease involves an abnormality in genetic material. Otherwise, there could be mutations or changes in an organism’s DNA. A genetic disease can be inherited through a family. There are three types of disorders: Chromosomal Disorders, Single Gene Disorders, and Multifactorial Disorders. Chromosomal Disorders are caused by too many chromosomes, not enough chromosomes, or the chromosome structures are abnormal. Polymelia is considered as a Chromosomal Disorder. Some other diseases that are considered as a Chromosomal Disorder are Down Syndrome and Turner Syndrome. Single Gene Disorders are caused by defects in individual genes. Gene defects cannot be detected by chromosome analysis. Thalassemia…

    Words: 1098 - Pages: 5
  • The Genetic Disorder Of Progeria

    The genetic disorder of Progeria is a very rare disease that it does not occur often.Most of the time the genetic disorder of Progeria is not inherited.The genetic disorder is a progressive genetic disorder that cause children to age rapidly. The genetic disorder causes some very serious symptoms. Some symptoms are slow growth and hair loss, they begin in the first year or two of life. They might also have a short stature, underdeveloped jaw, wrinkled or dry skin. They also tend to lose…

    Words: 350 - Pages: 2
  • Single Genetic Disorders

    According to Simon and Farndon (2008), genetic disorders are abnormalities in an individual 's gene or set of genes which could be due to mutations in the DNA. Also, there are thousands of genetic diseases that can occur as it is estimated that the average rate of genomic mutation is about 2x10-8 per nucleotide per genome (Nachman and Crowell, 2000). Furthermore, they can be grouped into three types named single gene disorders, chromosomal disorders and multifactorial conditions (Milewicz,…

    Words: 1599 - Pages: 6
  • Genetic Disorders: Celiac Disease

    For so many people, genetic disorders are a major issue and can cause many emotional and physical problems. One genetic disorder is Celiac, this is a disorder in which your small intestines are not able to work properly.This disease was discovered when some men were digging and found a woman that had died from a problem in her small intestines. They discovered Celiac about 2000 years ago. During 250 A.D the doctors called this disease “ koliakos” this means “suffering in the bowls” in greek.The…

    Words: 1307 - Pages: 6
  • Genetic Disorders Case Study

    When genetic disorders are discussed, both in popular culture and in medicine, they are viewed as negative ways, and for obvious reasons: many genetic disorders, like the one Sierra has, can easily kill or seriously inhibit a person from living a “normal life.” Throughout recent medical history, there has been a lot of focus on learning new ways to control or treat certain genetic conditions. In fact, the entire discussion of how to treat genetic disorders can be brought back to our class…

    Words: 807 - Pages: 4
  • Down Syndrome: A Genetic Disorder

    At least once in your life you have met or seen someone that has Down syndrome. The reason I say this is because Down syndrome is very common. Down syndrome is a genetic disorder that some people have. Along with this genetic disorder it brings more than just looking different from others. In this report I am going to describe to you some important things that Down syndrome brings with it. First you need to have an understanding of what Down syndrome is. There are three types of Down syndrome…

    Words: 365 - Pages: 2
  • Genetic Disorders: Down Syndrome

    Down syndrome Down syndrome is a genetic disorder that may alter the development of individuals. Each person that is diagnosed with Down syndrome is unique in their own way. Some may develop some of the most common characteristics associated with this disorder. According Sietske N. Heyn, PhD, some of the most common characteristics would include mild to moderate learning disabilities, distinctive facial features, and low muscle tone. However, not every person who is diagnosed with Down syndrome…

    Words: 669 - Pages: 3
  • Albinism: Genetic Disorders

    Albinism Have you ever laughed at someone who’s an albino because they looked like a freak? Did you even stop to think what it is like for them? People known as, “albinos,” have a genetic disorder called albinism. Since albinism is an ocular and appearance disorder, the symptoms and management have an impact on everyday life. The Genetics Albinism isn’t always obvious when you look, so it is important to know all possible symptoms. Albinism is usually when the hair, eyes, and skin become pale,…

    Words: 678 - Pages: 3
  • Pycnodysostosis: A Genetic Bone Disorder

    Toulouse-Lautrec Syndrome, is a rare genetic bone disorder that causes bones of individuals to be abnormally dense and has 1.7 occurrences per 1 million births (hindawi paper). The abnormal mutation of the gene that codes the enzyme cathepsin-K causes a disruption in normal osteoclast production. This disease occurs more commonly in male children than female children at a 2:1 ration (hindawi), but other factors such as age and race seem to show minimal differences. Many of the symptoms of…

    Words: 619 - Pages: 3
  • Genetic Disorders: Gene Therapy

    Gene therapy is a topic that has been researched more recently than most therapies for disorders. Genetic disorders like adenosine deaminase deficiency (ADA), or severe combined immunodeficiency (SCID), have been looked into for gene therapy, because of their single-gene mutation. These problems may be easily treated with gene therapy in the next few years of research. Children may be able to make it much farther than their original life expectancy, and may even eventually be able to live as a…

    Words: 1155 - Pages: 5
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