Down Syndrome
Mutation Story:
Hello, I am known as Trisomy 21 or Down Syndrome. I am a genetic mutation caused by having an extra chromosome 21. In a human cell, you are supposed to have 46 chromosomes or 23 pairs, half of your chromosomes are from your father and the other half from your mother. However, with me being a third chromosome 21 this means that either one of your parents have given you an extra chromosome, so instead of having 46 you have 47. This process occurs during meiosis.
There are three ways of how my genetic mutation can affect humans. The most common way at 95% of cases is nondisjuction which can come from the egg or the sperm. During this process the chromosomes don’t split apart causing cells to either have both chromosome 21’s or none. Another way is Robertsonian Translocation which is in 4% of my mutations cases. This means that a part of one chromosome moves and switches places with a part of another chromosome. In this example my mutation occurs with chromosome 21 and chromosome 14 but it can also happen with other different chromosomes as well (ex: chromosome 22). The long arm of chromosome 21 trans-locates over to chromosome 14 and the same happens with the short arms. Although, the chromosome with both short arms is typically long during meiosis so it doesn’t take part in my mutation as much. By the end of meiosis, my mutation has left you with two cells that are monosomy 21 (missing one chromosome 21) and two cells that are balanced carriers (in this there is a chromosome 21 and 14 as well as the chromosome with the long arms). The last way my genetic mutation can affect humans is through something called mosaic which is 1% of cases. This means that the humans cells are mixed, some cells have 46 chromosomes and some have 47. This certain mutation occurs during mitosis and when the baby is growing inside the womb. What happens with this certain of of my mutations is that there is nondisjungtion during mitosis. One cell would have an extra chromosome 21 and one would have none, the one without a chromosome 21 wouldn’t be able to survive so it would die, but the one with an extra chromosome would survive and continue to replicate and produce more cells with 47 chromosomes.
Now, with my genetic mutation it can cause not only organ problems but also problems with physical characteristics. Some problems with organs could come from their heart, blood, brain or reproductive organs and some physical characteristic that my mutation causes are a gap between the first two toes, a flat facial profile and even epicanthial folds.
Now, my mutation occurs randomly and it is not inherited from your parents however I tend to effect babies more when they are born to mothers who are older than 45.
My host, Ella was born today. She is one of the 6,000 babies born with Down Syndrome that I affected in just the year she was born. Her parents had a screening test during pregnancy which showed them that Ella had a high risk for having Down Syndrome. However this was confirmed that I had affected Ella with my mutation after her birth when the doctors did a blood test.
From the minute Ella was born she already had some physical characteristics of my mutation. She had: almond-shaped eyes with striking Brushfield spots (small, white, crescent-shaped markings) on her irises, a bigger than normal space between her first and second toe, a single crease across the palm of her right hand. Not only did she have physical traits but it was discovers at birth by her doctors that she had atrioventricular septal defect which is a hole in the muscle that usually separates the different chambers in her heart. The doctors had to do surgery on this and they were able to fix it, however little did Ella’s parents know, Ella would have much more trouble in the future living a normal life.
It would take her longer to grow than her peers and she would end up smaller than almost all of them. She will have delays in speech and self-care and to add on to this she will need glasses once she gets older because of the marking on her irises.She will also be faced with the difficulty of mild hearing loss, she will still be able to hear it will just be harder for her and once she gets older she will probably need hearing aids. One of the biggest difficulties that she will face in her lifetime will be learning and school. Ella will have a hard time learning from my mutation and her IQ will be quite a bit lower than other students her age. Also, in the far future, Ella is not going to be able to have any children of her own. Although she may get pregnant a few times my mutation will cause her to keep miscarrying. Not only will these things happen to Ella in the future but there is a high chance that she will become depressed and have anxiety because of all this that will happen to her because of my mutation and as well she will find it hard to live the way she is. Ella’s parents will try their best to help Ella but in the end there isn’t much that they can do except for show her their love for her each and everyday.
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Sources:
https://en.wikipedia.org/wiki/Down_syndrome
http://genetics.thetech.org/ask-a-geneticist/inherited-down-syndromehttp://
https://www.genome.gov/19517824/learning-about-down-syndrome/
http://kidshealth.org/en/parents/down-syndrome.html#
http://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
https://ghr.nlm.nih.gov/condition/down-syndrome
The Making of the Mutations Story:
ASK
Some of the questions I asked were:
What is Down Syndrome?
How is Down Syndrome caused?
Where does Down Syndrome occur and what causes it?
How does this syndrome affect someone who has it?
What are some of the symptoms you may experience with this syndrome?
Is there a cure?
How is this syndrome diagnosed?
What are the types of Down Syndrome and how do they occur?
What are some long-term affects of Down Syndrome?
ACQUIRE
The digital tools I used were:
Youtube
Wikipedia
The Tech Museum of Innovation.org
U.S National Library of Medicine
Kids Health.org
Centers for Disease control and Prevention.org
ANALYZE
For each question I found relevant information and sources by analyzing what I read and what was on the sites. For each site I looked at the advertisements to see if there were any and if they should be “trusted.” I also looked at the ending for the cite, and most of them were .gov or .org which was a clear sign that means that I can and should use this site and the information that it gave me. I also made sure that the information which I had found on one side matched what I found on the others to make sure that the information I was retaining was reliable. At the end of analyzing the information from the reliable sites I made sure I used my own words and I cited/embedded each site, to make sure I gave credit and to show where I got the information. I verified the sites I used and the information I used with multiple sites to make sure everything was reliable.
ASSESS/DEBRIEF:
Overall, I believe that the whole process went very smoothly and I was able to show my learning and comprehension in this subject. I was also happy that I didn’t depend on only online websites while doing this project but that I also watched some videos on YouTube because I feel like by watching the videos I got more of an understanding about my mutation then I would have gotten if I had just read through some websites. All in all, I am very happy with the end result but some things I could fix for next time is taking more time to read something through and really get an understanding of it.Such as, I would have liked to have further understood the process of meiosis. This was a huge part of my mutation and sadly we hadn’t reached meiosis yet in our science studies. Although I did look up videos about meiosis to try and get somewhat of an understanding about it however for next time I would like to make sure I fully understood that whole process of meiosis. But in the end I believe I did a good job on this assignment and I personally was very happy that at the end of this assignment I was able to understand this mutation much better than before.