Schizophrenia and chromosomal deletions
- Baylor College of Medicine, Houston, TX (United States)
- Univ. of Geneva School of Medicine, NY (United States); and others
Recent genetic linkage analysis studies have suggested the presence of a schizophrenia locus on the chromosomal region 22q11-q13. Schizophrenia has also been frequently observed in patients affected with velo-cardio-facial syndrome (VCFS), a disorder frequently associated with deletions within 22q11.1. It has been hypothesized that psychosis in VCFS may be due to deletion of the catechol-o-methyl transferase gene. Prompted by these observations, we screened for 22q11 deletions in a population of 100 schizophrenics selected from the Maryland Epidemiological Sample. Our results show that there are schizophrenic patients carrying a deletion of 22q11.1 and a mild VCFS phenotype that might remain unrecognized. These findings should encourage a search for a schizophrenia-susceptibility gene within the deleted region and alert those in clinical practice to the possible presence of a mild VCFS phenotype associated with schizophrenia. 9 refs.
- OSTI ID:
- 91200
- Journal Information:
- American Journal of Human Genetics, Vol. 56, Issue 6; Other Information: PBD: Jun 1995
- Country of Publication:
- United States
- Language:
- English
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