Diseases and Conditions

DiGeorge syndrome (22q11.2 deletion syndrome)

Preparing for an appointment

Your doctor may suspect DiGeorge syndrome (22q11.2 deletion syndrome) at birth, in which case diagnostic tests and treatment will likely begin before your child leaves the hospital.

Your child's health care provider will look for developmental problems at regular checkups and give you the opportunity to discuss any concerns with your doctor. It's important to take your child to all regularly scheduled well-baby visits and annual appointments.

Here's some information to help you prepare for your appointment.

What you can do

If your family doctor or pediatrician believes that your child shows signs of 22q11.2 deletion syndrome, basic question to ask include:

  • What diagnostic tests will be needed?
  • When will we know and how will we get the results of the tests?
  • What specialists will you refer us to?
  • What medical conditions related to this syndrome need to be addressed right now? What's our highest priority?
  • How will you help me monitor my child's health and development?
  • Can you suggest educational materials and local support services regarding this syndrome?
  • What services are available for early childhood development?

What to expect from your doctor

Be prepared to answer questions the doctor may ask, such as:

  • Does your baby have any problems feeding?
  • Does your baby seem listless, weak or sick?
  • Is your child reaching certain milestones in development, such as rolling over, pushing up, sitting up, crawling, walking or speaking?
  • Do you observe any behaviors that concern you?