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CHOPS Syndrome
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Introductions on CHOPS Syndrome
CHOPS Syndrome is a human development disorder.
How does it happen?
Anyone experiencing effects of the CHOPS Syndrome may experience intellectual disabilities, physical disabilities and/or heart damage.
There is not yet a treatment for this syndrome, only ways to treat symptoms. However, further studies could possibly provide a treatment for this syndrome.
The AFF4 gene is a crucial gene in the SEC (super elongated complex). The AFF4 gene exists in the SEC and acts as a recruiter in this complex that controls other factors of genes by interactions with proteins.
http://www.chop.edu/news/chops-syndrome-found-tied-key-events-early-development
With development, if the AFF4 gene is mutated, the results will be mutated proteins that control the DNA being copied to RNA.
The mutated proteins will proceed to created mutated copies of DNA that result in physical or intellectual problems with the individual.
Cognitive impairment and coarse facies (facial features),
Heart defects,
Obesity,
Pulmonary involvement,
Short stature and skeletal dysplasia (abnormal bone development).
Article Citation
CHOPS Syndrome Found, Tied to Key Events in Early Development
Ascenzi, J. (2015, March 2). CHOPS Syndrome Found, Tied to Key Events in Early Development. Retrieved March 6, 2015, from http://www.chop.edu/news/chops-syndrome-found-tied-key-events-early-development#.VP9p9O85DIU
Is it hereditary?
This syndrome is not hereditary. The syndrome can be present in anyone, whether their parents suffer from it or not.
Being that the disease is rare, it is unlikely that the syndrome would recur in subsequent children.
Analysis
This article holds a very neutral point of view, keeping things strictly informative. The author
managed to not portray a feeling
of personal beliefs in his writing,
the intent of the article was to
inform the reader
of the syndrome.
This could affect me if I ever had children born with or married someone with this syndrome.
I feel this issue deserves further studies to try and treat this syndrome.
Impact
CHOPS Syndrome is a significant issue because it can affect anyone's family, including my own or a loved one.
CHOPS syndrome is not exactly part of a larger issue. No one can control if the AFF4 gene will be mutated, but it's important to understand genetics to have answers as to what is happening in the body and what causes the syndrome.
It is unexpected and one should know how to handle the syndrome properly if needed.
Chelsey van Staveren
March 9th, 2015