OLIVEIRA, A. C. N.; COSTA NETA, G. P. F.; http://lattes.cnpq.br/1602188798200860; http://lattes.cnpq.br/1243838744235279; OLIVEIRA, Ana Cecília Novas de.; COSTA NETA, Gleyce da Paz Ferreira da.
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.