ABSTRACT

We report a female infant with complete DiGeorge syndrome who has craniofacial and skeletal abnormalities, feeding problems, cardiac defect, hypocalcemia induced seizure, thymic aplasia, and severe combined immune deficiency. Her mother also had a partial type of disease and was diagnosed at the same time with her baby. FISH analysis of both mother and the infant revealed a deletion in 22q11.2. This family’s findings indicate that 22q11 deletion syndrome is a genetic condition with wide interfamilial and intrafamilial variability in clinical expression.