Part 1: Mutation story

Hello! My name is gene 547893 and I live on the long arm or q arm of chromosome 5. My host’s name is Cassia Irizarry and she was born with the genetic mutation cri-du-chat syndrome or 5p minus syndrome. What that means is when she was born, the short or p arm of chromosome 5 broke off, killing thousands of my brothers and sisters including my twin, gene 547894. This syndrome is caused by a deletion instead of an insertion or deletion. This catastrophe might be sad for us genes but for Cassia and her family this small incident is absolutely devastating!

Cassia is part of a 10% group that inherited this rare syndrome from a parent that is unaffected. When this happens, like it did to Cassia, the parent, in this case her mother, has a chromosomal rearrangement but no genetic material is gained or lost. When Cassia was just a foetus, a random deletion occurred which caused her to get cri-du-chat-syndrome. When Cassia was just a baby, she had a very high-pitched, cat-like cry, which went away by age two, but she still has a voice that is a little higher than normal. Luckily for Cassia and her parents, she was not born with a heart defect, but she still suffers from intellectual disability and delayed development. She also has the physical symptoms of cri-du-chat-syndrome including a small head size, low-set ears and wide-set eyes.

Poor Cassia has to tackle many problems, including severe speech development problems, for which she has to undergo speech therapy. She also developed her motor skills very late and has a very short attention span. As Cassia grows older, even more problems will present themselves, including minor to severe hearing and eye problems and some dental problems because of her small jaw. Cassia should live to approximately 60 years of age and up to this point has lead a very happy life. Because just a small part of Cassia’s chromosome 5 broke off, she does not have major problems.

Part 2: The Making of Mutation story

1) What questions did you need to research in order to create your mutation story?
I asked the questions, what causes the mutation, what effects does the mutation have on the host’s body, how is a host’s life affected, what age are they expected to live to, what problems and obstacles do they have to face?

2) What new or familiar digital tools did you try to use as you worked through this project?
I used a a search engine to research the questions above and to find out more about the genetic mutation, cri du chat syndrome. I found 3 or 4 good websites about the syndrome that told me all I needed to know. I also used an encyclopedia to find out more about my mutation.

3) What was the process you used to investigate the topic?
The process I used was, I asked questions, researched my questions and acquired information about the mutation cri du chat syndrome. I then analyzed my information and went back and verified my sources.

4) How did you verify and cite the information you found?
I verified my information by checking the website domain to make sure it wasn’t a .com or a .ca or a blog that anyone could have written. I made sure that it was a .org, .edu or a .gov. I then checked to see if I could find who wrote the post to attribute it to them properly. I made sure that the information was correct by cross referencing it with other sources, including my encyclopedia. I would also make sure that the site was a professional one, connected to a well know organisation or university by googling the organisation the site was connected to.

5) How did the process of completing this challenge go? What could you have done better?
I think the process of completing this challenge went very well and I was very organised and efficient. I used my class time wisely, and completed the project on time. I could have made my story more engaging and less informative and added more pictures.

Here are the sources I used. They are not blogs and although I looked, I could not find one specific person to attribute the information to.

http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
http://www.criduchat.asn.au/content/cri-du-chat-syndrome
https://www.genome.gov/19517558