22q11.2 Deletion Syndrome is a genetic disorder caused by a missing section of chromosome 22, which is present from the time a child is conceived. The deletion has the potential to affect almost every system in the body and can cause a wide range of health problems.

The 22q11.2 Deletion Syndrome is almost as common as Down Syndrome. It is present in 1 out of every 1,000 live pregnancies.

Due to the deletion being so small, a special test called, Phish is needed to make this diagnosis. Often, ultrasound can identify birth defects like a heart problem but many physicians are still not familiar with the diagnosis or its extreme variability.