Schizophrenia and hypocalcaemia: variable phenotype of deletion at chromosome 22q11

Objective: The aim of this paper is to report the diagnosis of velo-cardio-facial syndrome (VCFS) in a patient presenting with schizophrenia and hypocalcaemia. Screening of deletion 22q11 in patients with schizophrenia is discussed. Clinical picture: We report a schizophrenic patient presenting with hypocalcaemia as the only feature of VCFS. Deletion 22q11 was confirmed by fluorescent in situ hybridisation (FISH). Treatment: The patient was treated with haloperidol 3 mg/day with resolution of psychotic symptoms. Outcome: The patient harboured some residual psychotic symptoms probably related to her irregular compliance. Conclusions: The wide range of phenotypic variability of VCFS makes screening of 22q11 deletion in schizophrenia difficult. It is proposed that screening of 22q11 deletion in schizophrenia should be selectively targeted only at patients with specific features of VCFS highly predictive of the presence of 22q11 deletion.