DiGeorge syndrome

by:haylee hardy

What causes the disorder?

DiGeorge syndrome is caused by the deletion of a portion of chromosome 22. Each person has two copies of chromosome 22, one inherited from each parent.

Which gene or chromosome is affected by the disorder?

chromosome 22

Are there prenatal tests for this disorder? If yes, what are they?

yes. Diagnosis of DiGeorge syndrome can be made by ultrasound examination around the eighteenth week of pregnancy, when abnormalities in the development of the heart or the palate can be detected.


What are the symptoms?

Bluish skin due to poor circulation of oxygen-rich blood,Breathing problems,A gap in the roof of the mouth (cleft palate) or other problems with the palate


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What population is affected? Can anyone be a candidate for the disorder?

Yes anyone can have it but it can also run in the family.

How is it inherited?

missing 30-40 genes on chromosome 22


What kind of medical assistance will the affected child need? Will further assistance be needed as the child grows older? What is the long term outlook for the affected child?

Hypoparathyroidism,Limited thymus gland function,Severe thymic dysfunction,Cleft palate,and Heart defects.


Are there any treatments or cures?

no cures treatments may help with some symptoms


Could this disorder have been prevented? If so, how?

DiGeorge syndrome may be passed from an affected parent to a child.


Can this individual have children in the future? Will those children be affected?

yes anyone can get it but it also depends on your history.


What is the current status of research of this disorder? Is there a cure coming soon?

They don't have a cure yet but they don't know when they are going to find it


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