9q34 deletion syndrome

9q34 Deletion Syndrome

9q34 Deletion Syndrome (pronunciation: nine-q-thirty-four deletion syndrome), also known as Kleefstra syndrome, is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and other physical abnormalities.

Etymology

The name "9q34 Deletion Syndrome" is derived from the specific location of the genetic mutation that causes the disorder. The "9q34" refers to the long arm (q) of chromosome 9 at position 34 where the deletion occurs.

Symptoms

Individuals with 9q34 Deletion Syndrome often exhibit a range of symptoms, including:

• Intellectual disability - Most individuals with this syndrome have moderate to severe intellectual disability.
• Hypotonia - Low muscle tone is common in individuals with this syndrome.
• Microcephaly - A smaller than average head size is often observed in individuals with this syndrome.
• Epicanthic folds - These are a fold of skin that comes down across the inner angle of the eye. This is a common facial feature in individuals with this syndrome.

Causes

9q34 Deletion Syndrome is caused by a deletion of genetic material from a specific region of chromosome 9. The deletion occurs at the end of the chromosome at a location designated q34.

Diagnosis

Diagnosis of 9q34 Deletion Syndrome is typically made through a combination of clinical examination and genetic testing. Genetic testing can identify the specific deletion of genetic material on chromosome 9 that causes the syndrome.

Treatment

There is currently no cure for 9q34 Deletion Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and other interventions to address the individual's specific symptoms.

See Also

• Genetic disorder
• Chromosome 9
• Intellectual disability
• Hypotonia
• Microcephaly
• Epicanthic folds

External links

• Medical encyclopedia article on 9q34 deletion syndrome
• Wikipedia's article - 9q34 deletion syndrome

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