Chromosomal and Genetic Conditions

22q11.2 Deletion Syndrome

What Is 22q11.2 Deletion Syndrome?

22q11.2 deletion syndrome is a genetic disorder that is linked with more than 180 different health issues. It happens in children who are missing a small piece of 22q11.2, a part of chromosome 22. This missing piece is also called a "deletion."

Chromosomes are threadlike structures found in every cell of the body. Each chromosome contains thousands of genes. A human cell normally contains 46 chromosomes (23 from each parent). Each one is identified by a number.

Not all children with 22q11.2 deletion syndrome will have all the possible issues linked with this condition. Most will have only some of these. The most common issues include cleft palate (an opening in the roof of the mouth), heart defects, facial differences, learning problems and speech and feeding problems.

You may have heard 22q11.2 deletion syndrome called by other names. It is sometimes called velocardiofacial syndrome, Shprintzen syndrome, DiGeorge syndrome or conotruncal anomaly unusual face syndrome. Most of these conditions result from a 22q11.2 deletion.

22q11.2 deletion syndrome was recognized by Dr. Robert J. Shprintzen of the Center for Craniofacial Disorders at the Montefiore Medical Center in Bronx, New York, in 1978. He described 12 children with the disorder.

22q11.2 Deletion Syndrome in Children

The syndrome occurs in one of 4,000 newborns. For most babies, this is a new genetic change that was not inherited from their mother or father. For 10% of children with this syndrome, it was passed on from one of the child's parents.

22q11.2 deletion syndrome is an autosomal dominant condition. This means that only one parent needs to have an abnormal gene for the child to inherit the disease.

A person with 22q11.2 deletion syndrome has a 50% chance for each pregnancy of passing the mutation on to the child.

22q11.2 Deletion Syndrome at Seattle Children's

Our craniofacial team has a great deal of experience treating children with 22q11.2 deletion syndrome. Over the past 5 years, we have treated more than 50 children with this syndrome.

Each year 15 to 20 children with 22q11.2 deletion syndrome come to Seattle Children's for treatment for the first time. Each year we do about 10 craniofacial surgeries for this condition.

In 2006 we established a 22q Clinic to diagnose this condition and help families manage it.

Learn about research at Seattle Children's into 22q11.2 deletion syndrome.