About 22q11.2 Deletion Syndrome :: Nationwide Children's Hospital

What is 22q11.2 Deletion Syndrome?

Defining 22q11.2 Deletion Syndrome

22q deletion syndrome has been called by many names, reflecting the constellation of clinical manifestations that have been identified over time. More recently, molecular genetic research has revealed that all of the syndromes listed below have one common link … there is a small amount of genetic material missing, termed a microdeletion, on the long arm (referred to as the q arm) of chromosome 22. Many now simply refer to all of these syndromes as 22q11.2 deletion syndrome:

  • DiGeorge Syndrome (DGS)
  • Velocardiofacial Syndrome (VCFS)
  • Conotruncal Anomaly Face Syndrome
  • Autosomal Dominant Opitz G/BBB Syndrome
  • Cayler Cardiofacial Syndrome
  • Shprintzen Syndrome

The 22q11.2 deletion syndrome occurs in approximately 1 out of every 4,000 live births. In most cases, the 22q deletion occurs de novo (the patient is the first in the family to have this deletion).  In approximately one in 10 families (10%) the deletion is present because one of the parents has the same deletion and passes it on to their baby. As a result, parents of a baby born with 22q11.2 deletion syndrome should have a blood test to determine their chances of having other children with the syndrome.


Since 22q11.2 deletion syndrome has the ability to affect every system of the body, it is important that affected children are treated by a team of pediatric specialists who can identify the variety of physical and psychosocial needs these patients may have. Although there is no cure for the 22q11.2 deletion, many therapies and medical interventions are available to help address its associated symptoms. For information on the treatment for 22q, click here

Signs and Symptoms

The majority of 22q11.2 deletion syndrome patients have congenital heart defects, most often conotruncal abnormalities (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect (VSD), vascular ring, and  truncus arteriosus) and palatal defects, including submucosal cleft palate and velopharyngeal dysfunction (VPD).  VPD (also referred to as velopharyngeal insufficiency, or VPI) is usually manifest as abnormal nasal air escape and hypernasal speech.  To find out other common problems associated with 22q11.2 deletion syndrome and additional signs and symptoms of 22q, click here

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