17p12 Duplication Syndrome

1. Causes of the disease

17p12 duplication syndrome is a genetic abnormality caused by duplication of the short arm (17p12) region of chromosome 17. It is believed that overexpression of genes in this region affects development, behavior, and physical characteristics.

2. Symptoms

• Developmental delays : Delays in language and motor skills are common.
• Intellectual disability : Mild to moderate intellectual disability may be present.
• Behavioral problems : Autism-related behaviors, attention deficits, and hyperactivity may be present.
• Physical characteristics : Certain facial and skeletal abnormalities may be present.
• Seizures : Seizures have been reported in some patients.

3. Treatment

• Developmental Support : Speech, physical and occupational therapy are used to support development.
• Behavioral therapy : Psychological and behavioral therapy for behavioral disorders may be offered.
• Epilepsy management : Antiepileptic drugs may be required.

4. Prognosis

Depending on the severity and management of the condition, quality of life can be improved with appropriate therapy and support.

5. The burden on parents

Since long-term treatment and medical support are required, this can place a heavy burden on families. It is important to work with medical institutions and support groups to receive appropriate support.