9q34.3 deletion syndrome

9q34.3 deletion syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 9. The syndrome is characterized by a variety of physical and mental abnormalities, including intellectual disability, distinctive facial features, and heart defects.

Causes

9q34.3 deletion syndrome is caused by the deletion of a small segment of the long (q) arm of chromosome 9. The exact size and location of the deletion varies among affected individuals, but it always includes the end (terminal) of the chromosome. The deletion occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development.

Symptoms

The symptoms of 9q34.3 deletion syndrome can vary widely, even among individuals with the same size and location of deletion. Common symptoms include intellectual disability, distinctive facial features such as a long face and prominent forehead, and heart defects. Other symptoms can include skeletal abnormalities, delayed development, and behavioral problems.

Diagnosis

Diagnosis of 9q34.3 deletion syndrome is typically made through a combination of clinical examination and genetic testing. Genetic testing can identify the deletion on chromosome 9 that causes the syndrome. However, because the symptoms can vary widely, diagnosis can be challenging.

Treatment

There is currently no cure for 9q34.3 deletion syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and medications to manage symptoms.

Prognosis

The prognosis for individuals with 9q34.3 deletion syndrome varies depending on the size and location of the deletion and the severity of symptoms. Some individuals with the syndrome have a normal lifespan, while others may have life-threatening complications.

See also

• Chromosome deletion
• Genetic disorder
• Chromosome 9

NIH genetic and rare disease info

• NIH info on 9q34.3 deletion syndrome

9q34.3 deletion syndrome is a rare disease.

9q34.3 deletion syndrome Resources
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