12q15-q21.1 Microdeletion Syndrome

1. Causes of the disease

12q15-q21.1 microdeletion syndrome is caused by the deletion of a region of genes spanning the long arm of chromosome 12 (12q15 to 12q21.1). This deletion can result in the loss of genes that affect neurodevelopment, growth, and organ function. It usually occurs as a de novo mutation.

2. Symptoms

• Developmental delays : Development of language and motor skills may be delayed.
• Intellectual disability : May be accompanied by mild to severe intellectual disability.
• Peculiar facial features : Some patients may have particular facial features.
• Internal organ abnormalities : Abnormalities of the heart and urinary system may be seen.
• Behavioral problems : Autism spectrum disorder and attention deficit hyperactivity disorder may be present.

3. Treatment

• Developmental Support and Therapy : Support is provided through physical, speech and occupational therapy.
• Visceral management : Specialized treatment for visceral abnormalities is provided.
• Behavioral Support : Psychotherapy and counselling are provided for behavioural issues.

4. Prognosis

The prognosis varies depending on the severity of the symptoms, but with early support and appropriate medical management, it is expected that the quality of life of patients will improve.

5. The burden on parents

Since medical management and therapeutic support are often required, which can be a significant financial and time burden, it is important to work with medical institutions and support services to receive the appropriate support.

For these diseases, early diagnosis and appropriate rehabilitation and medical management are important, and families and medical teams need to work together to support patients.