9q34.3 deletion syndrome

9q34.3 deletion syndrome

9q34.3 deletion syndrome (pronunciation: nine-q-three-four-point-three deletion syndrome) is a rare genetic disorder caused by the deletion of a small piece of chromosome 9. The syndrome is also known as Kleefstra syndrome after the first scientist to describe it, Dr. Tjitske Kleefstra.

Etymology

The name "9q34.3 deletion syndrome" refers to the specific location on chromosome 9 that is deleted. The "q" stands for the long arm of the chromosome, "34.3" refers to the banding pattern on the stained chromosome where the deletion occurs.

Symptoms

The symptoms of 9q34.3 deletion syndrome can vary, but often include intellectual disability, developmental delay, and distinctive facial features. Other symptoms can include hypotonia (low muscle tone), heart defects, and behavioral problems.

Diagnosis

Diagnosis of 9q34.3 deletion syndrome is typically made through genetic testing, which can identify the deletion on chromosome 9. This is often done if a child has symptoms that suggest the syndrome.

Treatment

There is no cure for 9q34.3 deletion syndrome, but treatment can help manage the symptoms. This often includes physical therapy, speech therapy, and occupational therapy. Medication may also be used to manage any associated medical conditions, such as heart defects.

Prognosis

The prognosis for individuals with 9q34.3 deletion syndrome can vary widely, depending on the severity of the symptoms and the presence of any associated medical conditions. With appropriate support and treatment, many individuals with the syndrome can lead fulfilling lives.

See also

• Chromosome deletion
• Genetic disorder
• Kleefstra syndrome

External links

• Medical encyclopedia article on 9q34.3 deletion syndrome
• Wikipedia's article - 9q34.3 deletion syndrome

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