22q13 deletion syndrome

22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the end of the chromosome at a location designated q13.

Symptoms and Signs

The symptoms of 22q13 deletion syndrome are incredibly varied and can affect many parts of the body. These symptoms often include intellectual disability, delayed development, weak muscle tone (hypotonia), and absent or delayed speech. Many affected individuals have behavioral problems, including autism and attention deficit disorder (ADD).

Causes

22q13 deletion syndrome is caused by deletions of genetic material in the long (q) arm of chromosome 22. Most cases are not inherited but occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic development.

Diagnosis

The diagnosis of 22q13 deletion syndrome is typically made by a geneticist based on clinical features and confirmed by genetic testing.

Treatment

There is no cure for 22q13 deletion syndrome. Treatment is symptomatic and supportive, often involving a team of specialists. Early intervention services, including physical, occupational, and speech therapy, are important.

See also

• Chromosome 22
• Genetic disorder
• Autism
• Intellectual disability

External links

• GeneReviews: 22q13 Deletion Syndrome
• National Organization for Rare Disorders: 22q13.3 Deletion Syndrome

22q13 deletion syndrome Resources
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