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Jacobsen Symptom

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by

MR. S.

on 4 April 2016

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Transcript of Jacobsen Symptom

Q11 (terminal deletion disorder)
Are there any prenatal tests?

Yes, amniocentesis or chlorine villus sampling and cytogenetic analysis with standard G - band
What causes the disorder?
It is caused by a loss of genetic material from chromosome 11.



What other names are there for the disorder?
What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older? What is the outlook for the child?
Pediatricians, pediatric cardiologists, neurologists, ophthalmologists, and orthopedic specialists can help. The child will need help as he/she grows. The outlook of the child is not determined because they have not yet found a cure
How is it inherited?
Jacobsen Syndrome is not inherited by a parent.
Jacobsen Symptom affects how the brain and spinal cord function. Results in impaired intelligence, learning, speech and motor skills. There are also a few facial features affected.
What is the current status of research on this disorder? Is there a cure coming soon?
Are there any treatments or cures?
There are no cures yet, but there are treatments to help the syndrome.
Jacobsen Symptom
What gene or chromosome is affected by the disorder?
chromosome 11
What are the symptoms?
What population is affected? Can anyone be a candidate for the disorder?
1 out of 100,000 infants are affected. 2 as many females are affected. Yes males can also have the syndrome
Could this disorder be prevented?
There is currently nothing that could prevent this syndrome.
Can this individual have children in the future? Will these children be affected?
I found no information about an individual with Jacobsen Syndrome's ability to have a child in the future.
The recent study is to find out what exactly find out what caused the disorder and hopefully find a cure in the future.
Kristen Swavely
Sources
Genetic Home Reference. U.S. National Library of Medicine, 8600 Rockville Pike, Bethesda, MD 20894 2015. Web. April, 1 2016.

Sandy Calhoun Rice, Health LIne



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