What is DiGeorge Syndrome?DiGeorge syndrome is a defect in the chromosome 22. DiGeorge Syndrome is mainly found in children under the age of 2. Chromosome 22 is one in the 46 chromosomes humans have in their body, it spans at least 49 million DNA base pairs, representing 1.5 and 2% of the total in DNA cells. The loss of a particular gene, TBX1, is thought to be responsible for many of the characteristic features of 22q11.2 deletion syndrome such as heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels. Some studies suggest that a deletion of this gene may contribute to behavioral problems as well. The loss of another gene, COMT, in the same region of chromosome 22 may also help explain the increased risk of behavioral problems and mental illness. DiGeorge Syndrome affects many different parts of the body, thus needing a fair amount of treatment ranging from cardiologists to psychiatrists.
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What are the Symptoms?
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How is it Treated?• DiGeorge Syndrome if not treated can last for years or can be for life. As of now, there is no cure for this syndrome, there are treatments however. As for treatment, it must help treat the parts of the body affected.
• Calcium injections/ ingestion (Phoslyra). • Palatoplasty which helps reconstruct the palette if a child has cleft palette. • Treatment such as Hematopoietic stem cell transplants. |
Diagnosis
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What Causes it?If a person has DiGeorge syndrome, one copy of chromosome 22 is missing a segment that includes an estimated 30 to 40 genes. Many of these genes haven't been clearly identified and aren't well-understood. The region of chromosome 22 that's deleted in DiGeorge syndrome is known as 22q11.2.
The deletion of genes from chromosome 22 usually occurs as a random event in the father's sperm or in the mother's egg, or it may occur early during fetal development. Rarely, the deletion is an inherited condition passed to a child from a parent who also has deletions in chromosome 22 but may or may not have symptoms. |
Complications
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