Monday, 6 October 2014

Monosomy 11: Jacobsen Syndrome

Monosomy 11
Jacobsen Syndrome


   After finally completing the assignment, I have found what disorder the fetus has. It is called the Monosomy 11 aka: Jacobsen Syndrome. It is a rare chromosomal disorder in which a portion of chromosome 11 is missing or deleted. Monosomy 11 includes abnormally slow growth before and after birth and/or to serve delays in the coordination of mental and muscular activity. Characteristics include malformations of the head and face, abnormalities of the eyes, hands, feet, bleeding and/or defects of the heart that are present at birth.

According to National institution of Health, approximately 1 of 100,000 people are affected by the Jacobsen syndrome. Jacobsen syndrome occurs when there is a deletion at the end of an arm in the 11th chromosome. Also Parents began reporting that their kids who had the Jacobsen syndrome began to show "autism-like features". Every 2 years parents with their kids go to San Diego for the 11q conference to share with the people about the latest findings about the disorder. The conference was helpful for investigation research questions. The scientists have recruited 17 children; with the parents they asked them questions about their kids while the children were being observed. 

 So in short, Jacobsen Syndrome can change the appearance of a person before birth. Ex: a baby born with short legs, short arms, etc. (see all the examples below this text). Also it changes the appearance of the person like for example it gives the person a wider mouth, big nose, slightly small eyes, etc.
Images:
 
Jacobsen syndrome was discovered by Danish physician Petra Jacobsen. It was discovered through genetic testing of children, thought to have genetic disorders.
Facts about Jacobsen Syndrome:
·       *  It is caused by the loss of the upper arm of chromosome 11
·       *  It is usually caused through mutation during the early stages of birth
* There is no cure to Jacobsen Syndrome but there are things that can be done to make this disorder safe. It includes heart surgery and kidney repair the Jacobsen Syndrome has done.


Sites:
https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/641/viewAbstract
https://answers.yahoo.com/question/index?qid=1006051025546
http://www.sciencedaily.com/releases/2014/09/140917141437.htm

1 comment:

  1. You didn't use a new story? But your information was correct. Good Job.

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