Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study

British Journal of Psychiatry

Volumn 183, Issue NOV., 2003, Pages 409-413

  Ivanov, D ^a   Kirov, G ^a   Norton, N ^a   Williams, H J ^a   Williams, N M ^a   Nikolov, I ^b   Tzwetkova, R ^c   Stambolova, S M ^d   Murphy, K C ^e   Toncheva, D ^b   Thapar, A ^a   O'Donovan, M C ^a   Owen, M J ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^c Plovdiv Psychiatric Dispensary ^*  (Bulgaria)

^d Clinic of Child Psychiatry   (Bulgaria)

^e BEAUMONT HOSPITAL   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; BIPOLAR I DISORDER; BULGARIA; CHROMOSOME 22Q; CHROMOSOME DELETION 22; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; HEMIZYGOSITY; HUMAN; HYPOTHESIS; INTERSTITIAL CHROMOSOME DELETION; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; ONSET AGE; POLYMERASE CHAIN REACTION; PSYCHOSIS; SCHIZOAFFECTIVE PSYCHOSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; VELOCARDIOFACIAL SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CLEFT PALATE; FACE; FEMALE; GENOTYPE; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA; SYNDROME;

EID: 10744220251     PISSN: 00071250     EISSN: None     Source Type: Journal    
DOI: 10.1192/bjp.183.5.409     Document Type: Article

References (22)

1. American Psychiatric Association (1994) Diagnostic and Statistical Manual of Mental Disorders (4th edn) (DSM-IV). Washington, DC: APA.
2. Arinami, T., Ohtsuki, T., Takase, K., et al (2001) Screening for 22q11 deletions in a schizophrenia population. Schizophrenia Research, 52, 167-170.
3. Bassett, A. S., Hodgkinson, K., Chow, E. W. C., et al (1998) 22q11 deletion syndrome in adults with schizophrenia. American Journal of Medical Genetics, 81, 328-337
4. Carlson, C., Sirotkin, H., Pandita, R. K., et al (1997) Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. American Journal of Human Genetics, 61, 620-629.
5. Chow, L. Y., Merce, G. B., Wing, Y. K., et al (1997) Schizophrenia and deletion at 22q11 in Hong Kong Chinese. American Journal of Medical Genetics, 74, 677.
6. De Luca, A., Conti, E., Grifone, N., et al (2003) Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich- associated protein) and schizophrenia. American Journal of Medical Genetics, 116B, 32-35.
7. du Montcel, S.T., Mendizabal, H., Ayme, S., et al (1996) Prevalence of 22q11 microdeletion. Journal of Medical Genetics, 33, 719.
8. Gothelf, D., Frisch, A., Munitz, H., et al (1997) Velocardiofacial manifestations and microdeletions in schizophrenic inpatients. American journal of Medical Genetics, 72, 455-461.
9. Karayiorgou, M., Morris, M. A., Morrow, B., et al (1995) Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proceedings of the National Academy of Sciences USA, 92, 7612-7616.
10. _, Galke, B., Budarf, M., et al (1997) Further characterization of the 22q11 schizophrenia susceptibility locus. American Journal of Medical Genetics, 74, 677.
11. Kirov, G., Murphy, K., Arranz, M., et al (1998) Low activity allele of catechol-O-methyltransferase gene and rapid cycling bipolar disorder. Molecular Psychiatry, 3, 342-345.
12. _, Lowry, C. A., Stephens, M., et al (2001) Screening ABCGI, the human homologue of the Drosophila white gene, for polymorphisms and association with bipolar affective disorder. Molecular Psychiatry, 6, 671-677.
13. Murphy, K. C. & Owen, M. J. (1996) Schizophrenia, CATCH 22 and FISH. British Journal of Psychiatry, 168, 397-398.
14. _, Jones, L. A. & Owen, M. J. (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Archives of General Psychiatry, 56, 940-945.
15. Papolos, D. F., Faedda, G. L., Veit, S., et al (1996) Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome; does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? American Journal of Psychiatry, 153, 1541-1547.
16. Pulver, A. E., Nestadt, G., Goldberg, R., et al (1994) Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. Journal of Nervous and Mental Disease, 182, 476-478.
17. Shaikh, T. H., Kurahashi, H., Saitta, S. C., et al (2000) Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Human Molecular Genetics, 9, 489-501.
18. Shprintzen, R. J., Goldberg, R. B., Lewin, M. L., et al (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft. Palate Journal, 15, 56-62.
19. _ & Golding-Kushner, K. J., et al (1992) Late-onset psychosis in the velo-cardio-facial syndrome. American Journal of Medical Genetics, 42, 141-142.
20. Usiskin, S. L., Nicolson, R., Krasnewich, D. M., et al (1999) Velocardiofacial syndrome in childhood-onset schizophrenia. Journal of the American Academy of Child and Adolescent Psychiatry, 38, 1536-1543.
21. Wilson, D. I., Cross, I. E., Wren, C., et al (1994) Minimum prevalence of chromosome 22q11 deletions. American Journal of Human Genetics, 55, A169.
22. Wing, J. K., Babor, T., Brugha, T., et al (1990) Schedules for Clinical Assessment in Neuropsychiatry. Archives of General Psychiatry, 47, 137-144.