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

DiGeorge Syndrome is characterized by several features, including congenital heart disease, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Symptoms vary in severity and type among individuals.

Causes

DiGeorge 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 (eggs or sperm) in a parent or very early in fetal development.

Diagnosis

Diagnosis of DiGeorge Syndrome often involves a blood test to check for the deletion of the 22q11.2 chromosome. Other tests may include echocardiogram, kidney ultrasound, and immune system evaluation.

Treatment

Treatment for DiGeorge Syndrome is focused on the specific symptoms in each individual. This can involve a team of medical professionals, including cardiologists, immunologists, endocrinologists, and developmental specialists.

Related Terms

• Congenital heart disease
• Cleft palate
• Chromosome 22
• Genetic disorder
• Pediatric endocrinology

See Also

• List of genetic disorders
• List of syndromes
• Chromosome deletion

External links

• Medical encyclopedia article on Digeorge syndrome
• Wikipedia's article - Digeorge syndrome

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