A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients

Anat Horowitz, Sagiv Shifman, Nechama Rivlin, Anne Pisanté, Ariel Darvasi*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

55 Scopus citations


The occurrence of a microdeletion at 22q11 has long been considered to constitute a risk factor for schizophrenia. Higher rates of 22q11 deletions have been reported in cohorts of patients with schizophrenia. In order to estimate the prevalence of the 22q11 deletion in schizophrenia patients more accurately, a screening for 22q11 deletions was conducted on a cohort of 634 schizophrenia patients, the largest sample size screened to date. Seven microsatellites and three SNPs were used to assess the deletion genotype. In cases where all markers were found to be homozygous (hemizygous), the individual was assumed to carry the deletion. The method used here is simple and efficient in comparison with hybridization technologies. Moreover, the rate of false positives is very low (P-value in the range of 10-4 to 10-3). Approximately 1% of the patient cohort was found to carry 22q11 deletions.

Original languageAmerican English
Pages (from-to)263-267
Number of pages5
JournalSchizophrenia Research
Issue number2-3
StatePublished - 1 Mar 2005

Bibliographical note

Funding Information:
This work was supported by the FIRST foundation of the Israel Academy of Sciences.


  • 22q11 Microdeletion
  • Microsatellites
  • Schizophrenia


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