22q11.2 Deletion Syndrome

What Is 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome is sometimes called DiGeorge syndrome or Velocardiofacial syndrome. Originally thought to affect 1 in every 3000 people, we are now learning that it may be more common. It is a genetic condition that is present from the moment of conception, and affects many different organs in the body.  It is often diagnosed because an infant is found to have a congenital heart defect (such as Tetralogy of Fallot, interrupted aortic arch, truncus arteriosus or ventricular septal defect). Many children with 22q11.2 deletion syndrome also have impaired immunity (difficulty fighting infections). Cleft palate and other palatal abnormalities are also common. However, each person may have a different combination of health problems of varying severity.

What Is Meant by a "22q11.2 Deletion"? 

Scientists use special diagrams and numbers to describe specific locations on chromosomes: 

  • 22q11.2 deletion: Chromosomes are numbered. Humans have 23 sets of chromosomes, and this one is number 22
  • 22q11.2 deletion: 
    • Chromosomes have two arms; p is the short arm and q is the long arm.
    • These are like maps, so 22q11.2 is a specific location on the long arm of chromosome number 22.
  • 22q11.2 deletion: This is the location on chromosome 22 that is missing genetic material. Since genetic material contains important instructions that tell the body how to grow and develop, health problems occur when some of the instructions are missing.

What Causes 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome is a genetic disorder caused by the partial deletion of genetic material on one copy of a person’s chromosome number 22. This genetic material contains important instructions that tell the body how to grow and develop. Approximately 90% of cases are due to a new, spontaneous deletion in the affected individual. 22q11.2 deletion syndrome can also be inherited from a parent who has the condition. It is inherited in an autosomal dominant fashion. This means that if one parent has the condition, the chance for an affected child is 50% with each pregnancy. If the condition is caused by a spontaneous deletion, then the risk for another affected child is approximately 1%.

How Is 22q11.2 Deletion Syndrome Diagnosed?

22q11.2 deletion syndrome can be difficult to diagnose because it affects each person differently. Sometimes a baby may be suspected to have this condition when he or she is born with multiple birth defects. Other times, babies are diagnosed with this condition after an abnormal newborn screen suggests a possible immunodeficiency. Older children and adults may be diagnosed later in life due to more mild features of this condition or by having a more seriously affected child. Clinical suspicion of 22q11.2 deletion syndrome is confirmed through genetic testing of a blood sample.

What Are the Symptoms of 22q11.2 Deletion Syndrome?

Complications from 22q11.2 present differently from child to child — those affected may experience few or multiple symptoms. These features include cardiovascular disease, cleft palate, immune deficiencies and velopharyngeal incompetence (incomplete palate closure behind the nose) resulting in speech-language and/or swallowing difficulties. Children with 22q11.2 can also have characteristic facial features, kidney abnormalities, developmental delay, and psychological and behavioral complications.

How Is 22q11.2 Deletion Syndrome Treated?

The Lurie Children’s 22q Deletion Center was the first of its kind in Illinois. It was the first multidisciplinary group of pediatric experts in Illinois dedicated to providing comprehensive management and multidisciplinary care for children and young adults with this condition. Because of the complexity and range of complications often found in individuals with 22q11.2 deletion syndrome, children with the condition usually need multiple pediatric specialists to treat specific medical issues and manage genetic, developmental and psychosocial needs or provide reproductive counseling.

Patients at Lurie Children’s are able to see multiple providers from across multiple specialties all in one day. The program links the experience and expertise from several pediatric subspecialty areas including immunology, otolaryngology (Ear, Nose & Throat Surgery - ENT), speech & language pathology, audiology, genetics, and social work.

The 22q Team

We also have dedicated providers in the divisions of pediatric psychiatry, developmental and behavioral pediatricskidney disease, and urology.

Make an Appointment

To make a new appointment or for additional information please contact us at 312.227.6120