Mutation Story

De Grouchy Syndrome

 

Hello, I am Chromosome 18 inside of Ella’s body. A piece of me that Ella needs, is missing. I lost multiple genes. I caused a so called “De Grouchy Syndrome” or “18q Deletion Syndrome”. This occurs 1 in 40,000 newborns such as Ella. This caused her to have intellectual disabilities and delayed her development. I am not inherited and it just happens randomly during the formation of reproductive cells, or in early fetal development. Her condition is quite severe. Sometimes, she has seizures, hyperactivity, aggression and autistic behaviors that affect communication and social interaction. Her features are slightly different from others. Ella has deep-set eyes, a flat/sunken appearance of the middle of the face and a wide mouth. She also has an abnormally small head size, short stature, weak muscle tone, narrow auditory canals which leads to hearing loss and limb deformities and thumbs that are positioned unusually close to the wrist. She will also have eye movement disorders and other visual problems, genital abnormalities, heart disease and skin problems. She can get treatment for her some of her physical features but not for her mental disabilities.

 

Part 2

  • -What are the causes of De Grouchy syndrome?

-Is there treatment for De Grouchy Syndrome?

-What happens when you have de grouchy syndrome?

-Is this syndrome inherited?

 

  • I used Google and it showed me plenty of websites on this syndrome.
  • First I searched up the name of the syndrome and slowly worked my way through deeper into the syndrome paying close attention to the details.
  • I verified the websites by the date it was published and the ratings on how helpful it was.
  • It went smoothly but I could have gone into more details into the relations of the syndrome.

 

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