PMID: 16525908Mar 10, 2006Paper

Velo-cardio-facial syndrome at the psychiatry consulting-liaison service in a general hospital

Actas españolas de psiquiatría
E Fernández-EgeaA Carrió Ybáñez

Abstract

Psychotic syndromes secondary to genomic disorders have low prevalence and may easily go unnoticed in the daily clinical practice. The velo-cardio-facial syndrome or DiGeorge syndrome (VCFS/DGS) is the genomic disorder most frequently associated to an interstitial deletion of the 22q11 region, with an incidence of one per every 4,000 newborns. Clinical manifestations constitute a constellation of cardiac, facial, urogenital and psychiatric disorders, among which schizophrenia or schizophreniform disorder stand out with an incidence of about 30% over the lifetime. In the following, we present the case of a 21 year old female patient who was admitted to the hematology service of our hospital due to pancytopenia secondary to metimazole, who had non-specified psychiatric background and who received antipsychotic treatment.

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

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