RESUMEN
To repor t a case of chromosome 22q11. 2 deletion presenting with large platelets, platelet dysfunction, immune-mediated thrombocytopenia and neutropenia, in addition to other features of the disease. Case Presentation and Intervention: The patient presented in the neonatal period with tetralogy of Fallot, subtle dysmorphic features and thrombocytopenia. Fluorescent in situ hybridization analysis confirmed the diagnosis of chromosome 22q11.2 deletion. Further investigations showed immune thrombocyto-penia and neutropenia in addition to reduced expression of platelet GPIb and abnormal platelet aggregation studies. CD4:CD8 ratio was reversed. His cardiac abnormality was successfully corrected surgically. He had mild recurrent bacterial infections. Recurrent epistaxis was becoming increas-ingly more severe, and he had cognitive developmental and speech delay. His serum calcium, phosphorus and parathor-mone have remained normal. Immune throm-bocytopenia can coexist with macrothrombocytopenia and platelet dysfunction in chromosome 22q11.2 deletion and may present with significant bleeding episodes