DiGeorge's syndrome

DiGeorge's syndrome, also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small segment of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.

Symptoms

DiGeorge's syndrome is characterized by heart defects, poor immune system function, a cleft palate, and low levels of calcium in the blood. Its symptoms vary widely, even among members of the same family, ranging from heart defects and facial anomalies to behavioral problems and intellectual disability.

Causes

DiGeorge's syndrome is caused by a deletion of 30 to 40 genes in chromosome 22 at location q11.2. The deletion occurs during the formation of reproductive cells in a parent and is passed to the child. The TBX1 gene, located in the deleted region, is a key gene associated with this syndrome.

Diagnosis

Diagnosis of DiGeorge's syndrome often depends on a combination of symptoms and genetic testing. A test called a FISH test can detect the deletion in chromosome 22.

Treatment

There is no cure for DiGeorge's syndrome. Treatment is focused on correcting the individual problems, such as heart defects, calcium levels, and immune system function. In some cases, thymus transplant may be considered for severe immune system problems.

Prognosis

The prognosis for individuals with DiGeorge's syndrome depends on the severity of symptoms. Those with heart or immune system problems tend to have a poorer prognosis.

See also

• Chromosome 22
• Genetic disorders
• Congenital heart defect

NIH genetic and rare disease info

• NIH info on DiGeorge's syndrome

DiGeorge's syndrome is a rare disease.

DiGeorge's syndrome Resources
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