Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome

• Published in: The Journal of pediatrics Vol. 131; no. 3; pp. 484 - 486
• Main Authors: DePiero, Andrew D., Lourie, Eli M., Berman, Brian W., Robin, Nathaniel H., Zinn, Arthur B., Hostoffer, Robert W.
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.09.1997; Elsevier
• Subjects: Adolescent; Anemia, Hemolytic, Autoimmune - diagnosis; Anemia, Hemolytic, Autoimmune - genetics; Anemia, Hemolytic, Autoimmune - immunology; Biological and medical sciences; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 22; Diagnosis, Differential; DiGeorge Syndrome - diagnosis; DiGeorge Syndrome - genetics; DiGeorge Syndrome - immunology; Female; Humans; Lymphocyte Count; Male; Medical genetics; Medical sciences; Recurrence; Thrombocytopenia - diagnosis; Thrombocytopenia - genetics; Thrombocytopenia - immunology; Chromosomal aberration; Leukopenia; Partial deletion; Clinical form; Chromosome G22; Hemopathy; Genetic disease; Case study; Association; Abnormal chromosome G22; Abnormal chromosome; Complex syndrome; Lymphocytopenia
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(97)80085-6

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 22ql1.2. 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.