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What is DiGeorge syndrome?

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Quick Answer

DiGeorge syndrome is a genetic condition that affects chromosome 22, states Mayo Clinic. This syndrome causes children to have poor body development of many bodily systems.

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DiGeorge syndrome is associated with many medical problems including heart defects, a cleft palate, low calcium levels in the blood and delayed cognitive development, states Mayo Clinic. These symptoms can vary from patient to patient and can also vary in severity. The symptoms that a child endures depends upon the organ systems that are most affected.

Signs and symptoms of DiGeorge syndrome include cyanosis due to heart defects, breathing issues, frequent infections due to a suppressed immune system, delayed growth and learning delays. These symptoms warrant a visit to the doctor in order to check a patient for the genetic defect that causes DiGeorge syndrome, according to Mayo Clinic.

DiGeorge syndrome is caused by a deletion of a part of chromosome 22. Each patient receives two copies of chromosome 22 from his parents. If one of the copies is partially deleted, then the patient may be born with DiGeorge syndrome. The region of the chromosomal deletion is known as 22q11.2. This deletion most often occurs randomly and can affect the father's sperm or the mother's egg. It may also occur very early on in embryonic development, states Mayo Clinic.

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