Diagnostic Criteria for DiGeorge Syndrome (DGS)

Definitive diagnosis

Male or female patient with reduced numbers of CD3+ T cells (less than 500/mm3) and two of the three following characteristics:

1. Conotruncal cardiac defect (truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, or aberrant right subclavian).
2. Hypocalcemia of greater than 3 weeks’ duration that requires therapy.
3. Deletion of chromosome 22q11.2.

Probable diagnosis

Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm3) and a deletion of chromosome 22q11.2.

Possible diagnosis

Male or female patient with reduced numbers of CD3+ T cells (less than 1500/mm3) and at least one of the following:

1. Cardiac defect.
2. Hypocalcemia of greater than 3 weeks’ duration that requires therapy.
3. Dysmorphic facies or palatal abnormalities.

Patients with a definitive or probable diagnosis are assumed to have a greater than 98 and 85 percent probability, respectively, that in 20 years they will still have the same diagnosis. Patients with a possible diagnosis are those that have some but not all of the characteristic clinical or laboratory findings of a particular disorder.