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