Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

Academic Article


  • 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.
  • Authors

    Published In

    Digital Object Identifier (doi)

    Author List

  • DePiero AD; Lourie EM; Berman BW; Robin NH; Zinn AB; Hostoffer RW
  • Start Page

  • 484
  • End Page

  • 486
  • Volume

  • 131
  • Issue

  • 3