Mutation story

Mutation Story

 Part 1:    

Greetings, People call me FG Syndrome, but my real name is Opitz–Kaveggia syndrome. My nickname “FG” came from the first letters of the surnames of the first patients that were diagnosed. I’m a rare genetic syndrome caused by having one or more recessive genes that happen to be located on the X chromosome. I notice that although I can effect men and women there is a lager amount of men are effected by me. I cause many different effects such as physical abnormalities, delays in growth, intellectual disabilities and low muscle tone, just to name a few.

Currently I’ve been living inside 19 year, Cole. He was first diagnosed as a toddler. Before he was diagnosed he showed no sign of me. He was born of average weight, but as he grew his parents started to worry. Cole was unable to sit up by himself, until he reached 28 months. Not only did I delay his ability to sit up, I also delayed his ability to walk without help, he reach the age of 6 and was finally able to walk. His speech was delayed, but not as severely has his ability to walk.

His appearance also changed. He had a wide mouth, a high forehead, and small cup-shaped ears. Because of me many parts of his body appeared broad, like his neck, palate, his big toes and thumbs. He started to develop hypertelorism (abnormally large distance between the eyes.)

I can also effect behaviour and intelligence. This can range from mild to severe. In Cole’s case it was mild. But those who are effected are more likely to be friendly, inquisitive, hyperactive, and have short attention span.

 

 

Part 2:

What questions did you need research in order to create your mutation story?

  • What is FG syndrome?
  • Who does it affect more? Men or Women.
  • How is it formed?
  • How common is FG syndrome?
  • Why is it called FG syndrome?
  • What are the symptoms

 

What new or familiar digital tools did you try to use as you worked through this project?

I mainly used google for this project. I used google because it’s what I’m comfortable with and its easy to use.

What was the process you used to investigate the topic?

first I asked a bunch of questions, then I found the answers to the questions. If I couldn’t find the answer to a question I would scratch that question. Once I had all the answers I needed I the wrote my story.

How did the process of completing this challenge go?What could you have done better?

For me making the story was easy, but finding valid information that I understood was a but challenging. If there was something that I could have done better is take more time in my research and in reading and understanding the research

 

Facts

https://ghr.nlm.nih.gov/condition/fg-syndrome#synonyms

https://www.childrens.com/specialties-services/specialty-centers-and-programs/plastic-craniofacial-surgery/programs-and-services/craniofacial-program/conditions-and-treatments/hypertelorism

https://ghr.nlm.nih.gov/condition/fg-syndrome

understanding fgs

Photos

http://www.geneticsupportfoundation.org/wp-content/uploads/2014/12/xlinked_recessive_inheritance.jpg

ADL – Science review app

 

Science app review

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Define: I wanted to find a fun way to learn the symbols of the periodic table. I also wanted to find a way to   have a periodic table with easy access, telling me all that I need to know about the element.

Dream : If I were able to memorize the symbols of the periodic table with the help of this app it would help   me tremendously. It would save a lot of time when I need to write down formulas. If I were able to have a periodic table without needing search one up online it would also save me a lot of time. There are some people like me who learn better when they have a visual attribution, finding an  app that could help with that would be amazing. Being able to know random facts about the elements like whether it’s in a row or column, the group, the state, the atomic weight and when it was discovered at the top my head would be a neat thing.

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Deliver : The app that I have chosen is called “Elements.” This app allowed me to name each element’s symbol and vise versa in a multiple choice setting. I also had a list of all the elements in alphabetic with which group it belongs, the state, the atomic weight,  when it  was discovered and whether it belongs to a row or column. I can also choose the level of difficulty I would like to have. Easy would give you a multiple choice of 4 and hard would give you a multiple choice of 6. During  the multiple choice you start with 20 seconds, with every right answer you get an additional 3 seconds and with every wrong answer you loose a couple seconds. The game stops when the timer hits 0. Points are keep track of, when you get an answer wrong it does not skip the next element it simply give you until you get it write. Like every other app there are pros and cons. Some pros being that you can learn the symbols of the elements in a fun way, you also have some form of the periodic table with you with facts about the elements. Some cons to this app is that it’s not easy  to go through all the elements it would take a long amount of time. After a while you start to give up and start clicking random elements or symbols until you get the right answer.

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Debrief : The app “Elements” would be beneficial for some. Personally this app did not help me improve, I found myself getting lazy, when I didn’t know the answer I wouldn’t stop and think I would just randomly click until I got it right. And having the periodic table alphabetized ended up confusing me more than it helped me. I personally do not think that this app is worth keeping on my phone.