DiGeorge Syndrome
DiGeorge Syndrome
DiGeorge Syndrome (pronounced dee-jorj sin-drohm), 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.
Etymology
The syndrome is named after the American pediatric endocrinologist Angelo DiGeorge, who first described the condition in 1965.
Symptoms
The symptoms of DiGeorge Syndrome can vary greatly, but commonly include Congenital heart disease, palatal abnormalities, and characteristic facial features. Other symptoms can include learning disabilities, immune system problems, and behavioral issues.
Causes
DiGeorge Syndrome is caused by a deletion of approximately 30 to 40 genes on chromosome 22. The most commonly deleted gene, TBX1, is believed to be responsible for many of the syndrome's characteristic features. However, the deletion of other genes in the region can contribute to the variability of symptoms.
Diagnosis
Diagnosis of DiGeorge Syndrome is typically made through a blood test to look for the missing piece of chromosome 22. This test, known as a Fluorescent in situ hybridization (FISH) test, can confirm the diagnosis in approximately 90% of cases.
Treatment
There is no cure for DiGeorge Syndrome, but treatment is available to manage the symptoms. This can include surgery to correct heart defects, therapy for speech and learning difficulties, and medication to manage behavioral issues.
Related Terms
External links
- Medical encyclopedia article on DiGeorge Syndrome
- Wikipedia's article - DiGeorge Syndrome
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