The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has

Velo-Cardio-Facial Syndrome (VCFS) is a genetic disorder caused by the deletion of part of chromosome 22. It occurs in approximately one in 4000 births and ther

It was first described in 1979, named in 1981, and in 2004 a gene for CHARGE was identified. In addition to a host of other conditions, most individuals have co

Until recently, the cellular basis for sudden death, the BrugadaSyndrome, has largely remained an unknown to modernarrhythmologists and cardiologists, particula

This award winning book tells a mother's story of raising her son Michael, who was born missing a submicroscopic piece of chromosome 22. That tiny missing fragm