Jacobson Syndrome: An Overview

Jacobson Syndrome: An Overview

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Jacobson Syndrome
Other names for disorder:
11q terminal deletion disorder
11q deletion disorder
Jacobson thrombocytopenia
JBS

Causes for disorder:
Jacobson Syndrome occurs when the genetic material from chromosome 11 is lost. At the end of the long arm (q) of chromosome 11 there is a deletion.

Chromosome Affected:
Chromosome 11-at the end of the long arm (q) there is a deletion.

Are there prenatal tests:
Many children are diagnosed with Jacobson Syndrome after birth, but there can be prenatal tests using cytogenic analysis. However a miscarriage may occur.

Symptoms:
They can vary, but most are:
Delayed development and motor skills
Speech problems
Learning disabilities
Bleeding disorder
Facial dysmorphism
Cognitive impairment
Behavioral problems
Compulsive behavior
Short attention span
*Because of some of the symptoms most patients end being diagnosed with ADHD

Population Affected:
It is estimated that 1 in 100,000 babies have Jacobson Syndrome. There have been over 200 cases reported. More females than males are diagnosed with the syndrome in a 2:1 ratio. Anyone can be a candidate for this syndrome since it occurs randomly.

Inheritance:
Most of the time Jacobson Syndrome is not inherited. The syndrome happens from a deletion of chromosome 11 that happens randomly when the reproductive cells are forming, or in fetal formation. Most patients are the first people in their family to have Jacobson Syndrome.

Medical assistance needed:
When children affected with Jacobson Syndrome are in the neonatal period they must have heart surgery. They may also need a feeding tube to aid in eating. There also needs to careful attention because of hematological issues. More follow ups and medical assistance is necessary as the child matures. The overall outlook is unknown, some patients diagnosed may not make it past age two, but some patients can live into adulthood. Because of this the life expectancy is uncertain.
Treatments:
There is no cure for Jacobson Syndrome. However, there are many options for treatments depending on how severe the case is. These include surgery, blood transfusions, special educations classes, therapy, and many specialist to help with development and deformities.

Could this have been prevented:
No, Jacobson Syndrome happens randomly in fetal development, therefore there is no real way to prevent this.

Can the individual have children:
Patients diagnosed with Jacobson Syndrome can have children, and it is possible that their children will have the syndrome also.

Current status on research:
Although there has been research there is no cure for Jacobson Syndrome nor one coming soon.


Glossary
Cognitive Impairment: A decrease in cognitive abilities, being able to comprehend thoughts and acquire knowledge

Cytogenic Analysis: Examination of chromosomes to check for genetic disorders or other abnormalities.

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Dysmorphism: Malformed or misshapen; pertaining to an abnormality in the shape or size of a body part

Hematological: The study of anything related to blood and blood-forming organs

Motor Skills: The ability to operate your body to move like walking, sitting, and running.

Neonatal: Newborn children

Thrombocytopenia: A disorder that results in a lower number of platelets in the blood














Works Cited
Genetics Home Reference website, Jacobsen Syndrome article, by The U.S. National Library of Medicine, published February 10, 2014

Orphanet Journal of Rare diseases website, Jacobsen Syndrome article, by Teresa Mattina, Concetta Simona Perrotta, and Paul Grossfeld, published March 7, 2009

Rare Chromo website,11q deletion disorder: Jacobsen Syndrome article, by Paul Grossfeld, published 2005

Healthline website, Jacobsen Syndrome article, by Sandy Calhoun Rice, published May 2013
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