December 16th 2016 archive

Mutation Story – Cris Du Chat –

My first and second paragraphs:

I am a missing piece of genetic material on the arm of the Chromosome 5. I am an unbalanced translocation, which means that I have chromosomal rearrangements. I give my host many problems. The kids at school make fun of me, I can’t help it. I give my host trouble using language, and distinct facial features. My host enjoys social interactions, he is friendly, but he doesn’t speak to others much. He thinks that I embarrass him. I can’t help the way I am. I’ve been with him since he was being created, he’s my best friend. I was created when my host’s parents reproductive cells where created. When my host was born, they gave him a FISH test, a genetic test for them to be able to see me. I am missing genetic material in the short arm, that is designated “p”. There are few pieces on the short arm that I am missing, that scientists think may lead to my host’s disability. 5p at band 13.33, the Semaphorin F gene which is located at Chromosome 5 at band 15.2 and the d cantenin gene which is located on the same band and short arm of the Semaphorin F gene. As there is no cure now for the diagnosis, knowing which genes are missing, can help them come to a cure. As, the deletion of the d cantenin gene is not found in all cases of Cri Du Chat, it makes the intellectual disability of the disability more severe. My host is not missing this gene. Here’s his story.

I am Clark. When I was born, my parents couldn’t tell I had a disorder. They took the normal gene tests on me, and saw that I was missing a piece of genetic material. They had to take a FISH test, to get a more specific result. I have Cri Du Chat, they would go on to tell my parents. Growing up, life was pretty simple for me, I didn’t really know that I had the disorder, while others did. When I was young, I couldn’t be bothered by what others said or thought about me, or anything really. I do now. My face is deformed, people judge me for that. I sometimes have trouble speaking, people judge me for that. I just don’t understand.         ///////////////////////////////////////////////////////////////////////////////////////////////////////////////////

Questions I asked:
– What happened to my gene as a gene?
– What caused my host’s mutation?
– What effects did the gene mutation have on your host’s body?
– How was the host’s life effected? What was their story?


What questions did you need to research in order to create your mutation story?
– Symptoms of Cri Du Chat.
– Causes of Cri Du Chat.
– What is Cri Du Chat Syndrome?
– How is Cri Du Chat diagnosed?
– Is Cri Du Chat inherited?


To help me complete this project, I used new websites to help me find correct information, comparing multiple ones together to make sure that the information I used was the best that I could find. To investigate this topic, I started with coming up with questions to ask, so that my research could be well formed, and it would be easier for me to research my specific questions. This project went well for me. It wasn’t very hard, and it helped me understand how genes are formed and how genetic disorders can occur.