Raising Awareness for 22q11.2 Deletion Syndrome

“The most common ‘rare’ syndrome you’ve never heard of “

- Michelle Breedlove Sells

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.

Project:

Senior Capstone Final Project

Purpose:

To create a system and provide educational workshops, training, and resources to support and raise awareness about 22q11.2 Deletion Syndrome not only through parents but in the medical field, education, sports, and professionalism.

Newborn diagnosis and early detection of 22q deletion syndrome are the key to interventions and therapies to help secure the best outcomes.