Rastreamento da deleção 22Q11 em indivíduos com espectro psicótico.

Abstract

Pacients with 22q11.2 microdeletion exhibit high risks of neuro-psychiatric manifestations, especialy psychosis; around 25% to 30% of individuals develop schizophrenia; and 0,3% to 2% of schizophrenic pacients present de 22q11.2 deletion. With the goal to investigate the frequency of 22q11.2 deletion among pacients with psychotic spectrum attended at Campina Grande city, it was selected by psychiatrist forty one pacients whose clinical evaluation proved the presence of psychiatric disorder of psychotic spectrum. It was performed the investigation of the hemizigose in critical region of 22 chromosome (22q11.2 deletion) among these selected pacients in bood sample via Polymerase Chain Reaction (PCR). It was detected molecular evidence of 22q11.2 microdeleteion in 1/41 (2,4%) evaluated individuals. Deduces so that the frequency of 22q11.2 microdeletion among the studied pacients with psychotic spectrum corroborated data presented by literature, fortifying the relation of this microdeletion in physiopathologic mechanisms involved in psychotic phenotype, with highlight in schizophrenia. Besides, being a autosomal dominant inheritance syndrome, with 50% possibility of being transmited to descendant, the diagnosis make possible the genitcal counseling and medical care inherent to the syndrome.