DiGeorge
DiGeorge syndrome (DGS), also known as 22q11.2 deletion syndrome, is a disorder caused by the deletion of a small segment of chromosome 22. This syndrome results in the poor development of several body systems and can cause a wide range of health problems.
Signs and Symptoms[edit | edit source]
Individuals with DiGeorge syndrome may exhibit a variety of symptoms, which can range from mild to severe. Common signs and symptoms include:
- Congenital heart defects
- Cleft palate
- Hypocalcemia (low levels of calcium in the blood)
- Thymic aplasia or hypoplasia, leading to immune deficiencies
- Developmental delays and learning disabilities
- Characteristic facial features such as a long face, almond-shaped eyes, and a small mouth
Causes[edit | edit source]
DiGeorge syndrome is typically caused by a deletion of a small part of chromosome 22, specifically at the q11.2 region. This deletion can occur randomly during the formation of reproductive cells or in early fetal development. In some cases, the deletion is inherited from a parent with the same condition.
Diagnosis[edit | edit source]
Diagnosis of DiGeorge syndrome is often based on clinical evaluation and genetic testing. Techniques such as fluorescence in situ hybridization (FISH) and microarray analysis can be used to detect the deletion on chromosome 22.
Treatment[edit | edit source]
There is no cure for DiGeorge syndrome, but treatment focuses on managing the symptoms and complications. This may include:
- Surgical correction of heart defects
- Calcium supplements for hypocalcemia
- Speech therapy for cleft palate
- Immune system support for thymic aplasia
- Educational support for developmental delays
Prognosis[edit | edit source]
The prognosis for individuals with DiGeorge syndrome varies widely depending on the severity of symptoms and the presence of associated health issues. With appropriate medical care and support, many individuals can lead relatively normal lives.
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See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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