22q11.2 Deletion Syndrome

Commonly called 22q or DiGeorge Syndrome, this genetic condition occurs when part of chromosome 22 is deleted before birth. 22q is most often diagnosed in infants, but it may not be detected until childhood or adolescence if there are no heart defects.

Complications from 22q can vary widely. Symptoms may include:

• Not enough calcium in the blood
• Immune system problems 
• Psychological disturbances 
• Congenital heart defects
• Problems with speech
• Difficulty swallowing
• Learning disabilities
• Cleft palate

If your child’s doctor suspects 22q, our 22q Clinic offers an evaluation process to properly diagnose your child’s condition and develop a treatment plan tailored to your child’s needs.

The evaluation includes:

• A complete physical exam and developmental evaluation.
• A review of your child's lab studies and other tests or evaluations.
• A discussion about the recommended healthcare guidelines.
• Time for you to ask any questions you have about 22q and how it may affect your child.
• Referrals to other doctors or specialists if needed.

The goal of our multispecialty clinic is to provide your child with a care team that can help meet the unique needs of your child. Our collaborative team works together to:

• Educate your family and your child’s other healthcare providers about 22q.
• Conduct research to find out more about the condition and its treatment.
• Offer comprehensive clinical care for your child.

With pediatric specialists from endocrinology, genetics, immunology, otolaryngology and speech therapy, our clinic provides patients and their families with comprehensive treatment and care plans.

Our dedicated 22q Clinic team

• Endocrinology: Pranav Gupta, MD
• Genetics: Karlene Coleman, Genetic Counselor
• Immunology: Cullen Dutmer, MD
• Otolaryngology: Sean Evans, MD; Sweeti Shah, DO
• Speech therapy: Jennifer Barnes, Speech Language Pathologist

As your child’s care plan is developed, you may be introduced to other pediatric specialists to help care for your child, including gastroenterologists, neuropsychologists and cardiologists.

The 22q Clinic is located within the Judson L. Hawk Jr, MD, Clinic for Children at the Center for Advanced Pediatrics. Clinic is held on the third Friday of the month from 8 a.m. to noon.

Center for Advanced Pediatrics
2174 North Druid Hills Road NE
Atlanta, GA 30329