Hello, I am a negative mutation known as Turner Syndrome. I tend to affect most females. My history can sometimes be confusing so I’ll explain it to you. When I was a gene, the SHOX part of me was missing on the X chromosome. The SHOX is a gene for long bone growth. That is why all my hosts are usually on the shorter side. The other missing genes regulate ovarian development.
My mutation was caused by when a female/my host is missing one out of two X chromosomes in the female cell, if it’s not missing then it’s structurally altered. An easier way to explain it is that my mutation was caused by deletion. One of my chromosomes was taken away instead of added or replaced.
30% of my hosts have extra folds of skin on their neck, often referred to “webbed neck”, a low hairline on the back of their neck, swelling in the hands and feet, abnormalities with bone structure and/or kidney problems. About one third to one half of the hosts are born with heart problems too. The complications with those problems can sometimes be life threatening. Most of the females have normal intelligence, BUT, developmental delays, nonverbal learning disabilities and behavioral issues are also possible.
My mutation has many affects on my hosts life, such as a shorter height (due to the missing SHOX gene), and her ovaries would never function properly. Due to this, she would be infertile (the inability to conceive a child). The host I have a affected right now has to go under surgery for hormone replacement so she can properly develop breasts, female body contour, proper bone growth and her menstrual cycle. My hosts lifetime is also affected by having difficulty being in certain social situations.
If you have never heard of me before, now you can say you have a whole new respect for how I am.
The questions I asked to create my mutation story was “what happened Turner syndrome as a gene?” and “how does turner syndrome affect a person’s life?”. I used the combination of internet and google search engine as I worked through this project. The process of this project went pretty well, what I would of done differently is, a little more research with more detail
Bibliography:
- http://ghr.nlm.nih.gov/condition/turner-syndrome
- http://learn.genetics.utah.edu/content/disorders/chromosomal/turner/
- http://rarediseases.org/rare-diseases/turner-syndrome/
- http://img.medscape.com/slide/migrated/editorial/cmecircle/2002/2155/slide13.gif
- http://medlibes.com/uploads/Screen%20shot%202010-07-05%20at%2012.42.41%20PM.png
