Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11

Maria Karayiorgou, Michael A. Morris, Bernice Morrow, Robert J. Shprintzen, Rosalie Goldberg, Julian Borrow, Arnaud Gos, Gerald Nestadt, Paula S. Wolyniec, Virginia K. Lasseter, Harvey Eisen, Barton Childs, Haig H. Kazazizan, Raju Kucherlapati, Stylianos E. Antonarakis, Ann E. Pulver, David E. Housman

Research output: Contribution to journalArticlepeer-review

552 Scopus citations


We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.

Original languageEnglish (US)
Pages (from-to)7612-7616
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number17
StatePublished - Aug 15 1995


  • human
  • psychosis
  • somatic cell hybrids
  • velocardiofacial syndrome

ASJC Scopus subject areas

  • General


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