22q11.2 Deletion Syndrome: Diagnosis and Treatment

How Do Doctors Diagnose 22q11.2 Deletion Syndrome?

22q11.2 Deletion Syndrome, or 22q11.2DS, can be diagnosed with a blood test to look for the deletion. It may be diagnosed with blood tests such as a DNA probe (FISH test), microarray or MLPA test.

How Do Doctors Treat 22q11.2DS?

There is no cure for 22q11.2DS. Treatment depends on your child’s symptoms and needs. The care team will talk with you to create a treatment plan for your child.

Common treatments can include:

• Regular follow-up care for your child’s symptoms and needs to address health issues
• Surgery, if needed

Which Tests Might My Child Have After Diagnosis?

Your child might have one or more of the following tests after diagnosis, depending on their needs and symptoms:

• Echocardiogram and EKG (tests to check the heart’s rate and rhythm)
• Kidney ultrasound
• Testing of the immune system, thyroid, calcium levels, hearing and vision

Who Is On My Child's Care Team?

There are many people on your child’s care team, depending on their needs. Care team members can include:

• Geneticist (genetics doctor)
• Genetic counselor (person who helps coordinate genetic testing and explains the results)
• Dentist
• Primary care provider
• Craniofacial or Cleft Team
• Immunologist (Immune Doctor)
• Otolaryngologist (ear, nose and throat) doctor
• Cardiologist (heart doctor)
• Gastroenterologist (stomach and intestine doctor)
• Ophthalmologist (eye doctor)
• Developmental pediatrician during childhood (to help with developmental delays)
• Psychologist or psychiatrist

Where Can I Learn More About 22Q11DS?

You can learn more about 22q11DS from:

• Your child’s care team
• The MGH 22q11 Clinic page on Facebook
• International 22q Foundation
• Chromosome 22 Central
• Chromosome Disorder Outreach (CDO)
• Unique: The Rare Chromosome Disorder Support Group

Rev. 8/2020. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treat any medical conditions.