22q11.2 distal deletion syndrome

22q11.2 Distal Deletion Syndrome

Schematic of the 22q11.2 deletion region

22q11.2 distal deletion syndrome is a genetic disorder caused by a deletion of a small segment of chromosome 22. This condition is part of a group of disorders known as 22q11.2 deletion syndromes, which also includes DiGeorge syndrome and velocardiofacial syndrome. The deletion occurs at the distal end of the 22q11.2 region, which is distinct from the more common proximal deletions associated with other syndromes.

Genetics

The 22q11.2 distal deletion syndrome is caused by a deletion of genetic material on the long arm of chromosome 22, specifically at the 22q11.2 locus. This deletion can vary in size but typically involves a loss of several genes. The deletion is usually de novo, meaning it occurs as a new mutation in the affected individual, although it can be inherited from a parent who carries the deletion.

Clinical Features

Individuals with 22q11.2 distal deletion syndrome may present with a variety of clinical features, which can include:

• Developmental delay
• Intellectual disability
• Congenital heart defects
• Palatal abnormalities
• Immune system dysfunction
• Skeletal anomalies

The severity and combination of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of 22q11.2 distal deletion syndrome is typically made through genetic testing, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis. These tests can identify the specific deletion on chromosome 22.

Management

Management of 22q11.2 distal deletion syndrome is multidisciplinary and tailored to the individual's specific symptoms. It may involve:

• Surgical intervention for congenital heart defects
• Speech therapy for palatal abnormalities
• Educational support for developmental delays
• Regular monitoring of immune function

Related Pages

• 22q11.2 deletion syndrome
• DiGeorge syndrome
• Velocardiofacial syndrome
• Chromosome 22

Gallery

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  Schematic of the 22q11.2 deletion region

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  Schematic of the 22q11.2 deletion region