Part 1: Mutation Story
Hello, my name is Gonadal dysgenesis or Monosomy X however I am more commonly known as Turner Syndrome. I, Turner Syndrome, am related to the X chromosome, which is one of the two sex chromosomes. I was resulted when one normal X chromosome was present in a female’s body and the other sex chromosome was missing or structurally altered. Approximately half of the individuals that obtain me have monosomy X (45, X), meaning that each cell in the body has only one copy of the X chromosome. However, I can also occur when one of the sex chromosomes is partially missing or rearranged rather than completely absent, which is known as mosaicism. Partial monosomy like a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) are also considerably common.
I came to my existence due to an error in the division of a parent’s reproductive cells, either in the father’s sperm or the mother’s egg in my hosts, Hazel’s, body. I occurred as a random event during the formation of reproductive cells caused by an error in cell division called nondisjunction which can result in reproductive cells with an abnormal number of chromosomes. Although generally I am not inherited there have been some instances where I was caused due to a partial deletion of the X chromosome which was passed from one generation to the next.
As Hazel was still developing in her mother’s womb, several obstetricians noticed abnormal ultrasound findings including a heart defect and kidney abnormality. After a series of amniocentesis and chronic villus samplings Hazel was diagnosed with Turner Syndrome. Although her family was devastated, they attempted to seek comfort from support groups and genetic counselors. Throughout the rest of the pregnancy several specialists were involved in screening for specific conditions, making diagnoses, recommending treatments and providing care since Turner Syndrome can result in several development problems and medical complications.
As soon as Hazel was born she already displayed several symptoms of Turner syndrome such as a low posterior hairline, webbed neck from cystic hygroma in infancy and lymphedema. She also had several conditions which were corrected surgically such as bicuspid aortic valves and poor blood flow to the kidneys. As Hazel grew she began develop a short stature which caused her to inject growth hormones with low doses of androgen allowing her to increase growth and probably reach final adult height. After Hazel was enrolled in the public school system she began to demonstrate an attention deficit hyperactivity disorder which caused problems with concentration, memory and attention.
When Hazel finally reached adolescence she was required to begin estrogen therapy to prompt the body into beginning puberty and to maintain healthy sexual development and functioning throughout adulthood. As Hazel matured and got married she and her husband tried to conceive a child however after many unsuccessful attempts they decided to become pregnant using donor eggs and IUI/IVF to ensure a successful pregnancy. This resulted in Hazel giving birth to a healthy baby boy.
Hazel now in her late 40’s and is able to lead a respectively normal life with her husband and child. She now works for The Turner Syndrome Society of Canada Organization, providing local mutual support groups for individuals with TS and their families and sharing up-to-date medical information on Turner Syndrome to families, physicians and the public. Throughout the rest of her lifetime she will experience certain struggles and difficulties however she knows that she will always be able to overcome them with the love and support from the people around her.
(Turner Syndrome Society of Canada)
Part 2: The Making of Mutation Story
- What questions did you need to research in order to create your mutation story?
What is Turner Syndrome? What does it mean?
Is Turner Syndrome Hereditary?
What are some of the symptoms?
What are some of the long term effects of turner Syndrome?
Can Turner Syndrome be cured?
What is the genetic makeup of a person with Turner Syndrome?
Is it possible for women with Turner Syndrome to conceive a child?
How can Turner Syndrome be diagnosed?
Are women with Turner Syndrome able to lead a normal life?
How many children are born with this mutant genes?
- What new or familiar digital tools did you try to use as you worked through this project?
As I worked on this project I mainly used clinic websites and other reliable government and organization sites. I also attempted to watch documentaries based on the subject I was researching and personal stories on YouTube about how other specific individuals survived with that mutation.
- What was the process you used to investigate this topic?
I investigated this topic by starting off with one single question and then branching out based on the information I gathered. I also tried to used many different sources and websites I attempt to education myself to the greatest extent about my topic.
- How did you verify and cite the information you found?
As I was working on this project I verified my information by checking multiple sources in order to insure that it was correct and kept track of all my websites for further reference. I also tried to steer away from websites which had advertisements or any evident grammatical mistakes. As I was collecting all my necessary information I also made sure that I was using my own words and cited/embedded each site, to make sure I was showing where I was collecting my information.
- How did the process of completing this assignment go? What would you have done better?
Overall, I believe that the process of completing this assignment went really well and I was able to research my topic in great detail and show my comprehension in this subject. I was also able to gain a better understanding in DNA and gene mutations. I was really satisfied with my final results however I wish there were a couple of things I done better such as possibly keeping some brief notes as I was reading all the material to keep track of all the information. I also wish that I gained a full understanding of my mutation before beginning to create my story instead of struggling to find information along the way.
Sources:
https://www.youtube.com/watch?v=YQG8o5b4lKg
https://www.youtube.com/watch?v=iMbHFlZzi7A
https://www.endocrineweb.com/conditions/turner-syndrome/estrogen-replacement-therapy-turner-syndrome
http://www.mayoclinic.org/diseases-conditions/turner-syndrome/basics/tests-diagnosis/con-20032572
https://www.verywell.com/turner-syndrome-monosomy-x-and-pregnancy-loss-2371301
https://ghr.nlm.nih.gov/condition/turner-syndrome#diagnosis
https://en.wikipedia.org/wiki/Turner_syndrome#Kidney