A Case of Microdeletion in 22q11.2 in a patient with schizophrenia, mental retardation and diabetes

Authors

  • Nuno Borja-Santos Serviço de Psiquiatria, Hospital Prof. Doutor Fernando Fonseca, EPE
  • Berta Ferreira Serviço de Psiquiatria, Hospital Prof. Doutor Fernando Fonseca, EPE
  • Raquel Ribeiro Serviço de Psiquiatria, Hospital Prof. Doutor Fernando Fonseca, EPE
  • Helena Carreira Serviço de Pediatria, Hospital Prof. Doutor Fernando Fonseca, EPE
  • Teresa Maia Serviço de Psiquiatria, Hospital Prof. Doutor Fernando Fonseca, EPE

DOI:

https://doi.org/10.25752/psi.6082

Keywords:

Genetics, Schizophrenia, Mental Retardation, Diabetes Mellitus

Abstract

The authors describe a case of a 31 year old female patient, who experienced at the age of 26 a sudden onset of schizophrenia, diagnosed by DSM-IV and ICD-10 criteria. She was treated with haloperidol, but after a second outburst at the age of 27 she was switched to risperidone. At the age of 28, she was diagnosed with insulin-dependent diabetes mellitus. Because she had several malformations - usually reported in velo-cardio-facial syndrome (VCFS) - the authors decided to perform an analysis of chromosome 22, at 22q11.2, since this region has been associated with VCFS and schizophrenia. The result was a microdeletion observed at 22q11.2. The authors discuss the clinical and genetic implications of this finding, in what concerns schizophrenia, velo-cardio-facial syndrome and diabetes mellitus.

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Published

2004-06-01

Issue

Vol. 1 No. 1 (2004)

Section

Case Reports

License

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