Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

We describe two patients with clinical and cytogenetic findings consistent with DiGeorge/velocardiofacial syndrome who had recurrent cytopenias at presentation. Our observations suggest that recurrent cytopenias may be part of the clinical spectrum of deletion 22q11.2. We also suggest that the diagnosis of DG/VCF syndrome be considered in patients with unexplained recurrent immune cytopenias in association with cardiac lesions, subtle craniofacial dysmorphisms, and/or learning or behavioral impairments.