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

@article{Horowitz2005ASO,
  title={A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients},
  author={Anat Horowitz and Sagiv Shifman and Nechama Rivlin and Anne Pisant{\'e} and Ariel Darvasi},
  journal={Schizophrenia Research},
  year={2005},
  volume={73},
  pages={263-267}
}
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… Expand
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References

SHOWING 1-10 OF 27 REFERENCES
Genetic variation in the 22q11 locus and susceptibility to schizophrenia
TLDR
The results are consistent with contribution from more than one gene to the strikingly increased disease risk associated with this locus, and Finer-scale haplotype mapping has identified two subregions within the 1.5-Mb locus that are likely to harbor candidate schizophrenia susceptibility genes. Expand
Screening for 22q11 deletions in a schizophrenia population
TLDR
The findings establish the existence of physically near-normal individuals with 22q11.2 deletion among learning disabled or mildly retarded persons with schizophrenia, and indicate that 22q 11.2 deletions does not contribute substantially to the development of schizophrenia in general. Expand
Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.
TLDR
The 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. Expand
Velocardiofacial syndrome in childhood-onset schizophrenia.
TLDR
The results suggest that 22q11 deletions may be associated with an earlier age of onset of schizophrenia, possibly mediated by a more salient neurodevelopmental disruption. Expand
A highly significant association between a COMT haplotype and schizophrenia.
TLDR
An efficient approach to gene discovery is reported that found a highly significant association between schizophrenia and a COMT haplotype and can be widely implemented for the genetic dissection of other common diseases. Expand
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
TLDR
FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion. Expand
Another critical region for deletion of 22q11: a study of 100 patients.
TLDR
It is plausible that several genes located in the two segments corresponding to the two deleted regions are involved in the same developmental pathway or in an extremely long-range position effect. Expand
Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach
TLDR
Whether variation within six genes from the VCFS critical region at 22q11 confers susceptibility to schizophrenia is examined to define the location of a schizophrenia susceptibility locus more precisely by performing association mapping using seven microsatellites spanning theVCFS region with an average inter-marker distance of 450 kb. Expand
22q11 deletion syndrome in adults with schizophrenia.
TLDR
The results replicate the association of a 22q11 deletion syndrome with schizophrenia and confirm the importance of ascertainment in influencing the phenotype found, which may include significant behavioral components that emerge over time. Expand
Velocardiofacial manifestations and microdeletions in schizophrenic inpatients.
TLDR
This study screened the records of two major general hospitals for patients with abnormalities characteristic of VCFS, and cross-checked the data with the register of psychiatric hospitalizations in four psychiatric hospitals to identify a subgroup of schizophrenic patients with deletions in the VCFS region of the long arm of chromosome 22. Expand
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