Chromosomal abnormalities and schizophrenia

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 97, Issue 1, 2000, Pages 45-51

  Bassett, Anne S ^a   Chow, Eva W C ^b   Weksberg, Rosanna ^b  

^a CENTRE FOR ADDICTION AND MENTAL HEALTH   (Canada)

^b NONE

Author keywords

22q11 deletion syndrome; Chromosomal aberrations; Schizophrenia; Sex chromosomes; Velocardiofacial syndrome

Indexed keywords

ANEUPLOIDY; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; GENETIC ASSOCIATION; HUMAN; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SCHIZOPHRENIA; SEX CHROMOSOME; VELOCARDIOFACIAL SYNDROME; CHROMOSOME 22; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETICS;

ANEUPLOIDY; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 22; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; SCHIZOPHRENIA; SEQUENCE DELETION; SEX CHROMOSOMES;

EID: 0034113273     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(200021)97:1<45::AID-AJMG6>3.0.CO;2-9     Document Type: Review

References (51)

1. Bassett AS. 1992. Chromosomal aberrations and schizophrenia: autosomes. Br J Psychiatry 161:323-334.
2. Bassett AS, Chow EWC. 1999. 22q11 Deletion Syndrome: a genetic subtype of schizophrenia. Biol Psychiatry 46:882-891.
3. Bassett AS, Hodgkinson K, Chow EWC, Correia S, Scutt LE, Weksberg R. 1998. 22q11 Deletion Syndrome in adults with schizophrenia. Am J Med Genet (Neuropsychiatr Genet) 81:328-337.
4. Bennett RL, Karayiorgou M, Sobin CA, Norwood TH, Kay MA. 1997. Identification of an interstitial deletion in an adult female with schizophrenia, mental retardation, and dysmorphic features: Further support for a putative schizophrenia-susceptibility locus at 5q21-23.1. Am J Hum Genet 61:1454-1456.
5. Brzustowicz L, Honer WG, Chow EWC, Little D, Hogan J, Hodgkinson K, Bassett AS. 1999. Linkage of familial schizophrenia to chromosome 13q32. Am J Hum Genet 65: 1096-1103.
6. Calzolari E, Aiello V, Palazzi P, Sensi A, Calzolari S, Orrico D, Calliari L, Holler H, Marzi C, Belli S, Bernardi F, Patracchini P. 1996. Psychiatric disorder in a familial 15: 18 translocation and sublocalization of myelin basic protein to 18q22.3. Am J Med Genet 67:154-161.
7. Casacchia M, Brisdelli F, de Cataldo S, Rossi A, d'Alessandro E. 1996. High resolution cytogenetic study in schizophrenia. Ann Genet 39:144-146.
8. Cohen E, Chow EWC, Weksberg R, Bassett AS. 1999. The phenotype of adults with the 22q11 deletion syndrome: a review. Am J Med Genet 86:359-365.
9. Craddock N, Owen M. 1994. Chromosomal aberrations and bipolar affective disorder. Br J Psychiatry 164:507-512.
10. DeLisi LE, Friedrich U, Wahlstrom J, Boccio-Smith A, Forsman A, Eklund K, Crow TJ. 1994. Schizophrenia and sex chromosome anomalies. Schizophr Bull 20:495-505.
11. Demezuk S, Aurias A. 1995. DiGeorge syndrome and related syndromes associated with 22q11.2 deletions: a review. Ann Genet 38: 59-76.
12. Devriendt L, Fryns JP, Mortier G, Van Thienen MN, Keymolen K. 1998. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 35:789-790.
13. Done DJ, Crow TJ, Johnstone EC, Sacker A. 1994. Childhood antecedents of schizophrenia and affective illness: social adjustment at ages 7 and 11. Br Med J 309:699-703.
14. Doody GA, Johnstone EC, Sanderson TL, Cunningham Owens DG, Muir WJ. 1998. 'Pfropfschizophrenie' revisited: schizophrenia in people with mild learning disability. Br J Psychiatry 173:145-153.
15. du Montcel ST, Mendizabal H, Ayme S, Levy A, Philip N. 1996. Prevalence of 22q11 microdeletion. [Letter] J Med Genet 33:719.
16. Fañanas L, Fuster C, Guillamat R, Miro R. 1997. Chromosomal fragile site 1q21 in schizophrenic patients. Am J Psychiatry 154:716.
17. Faraone SV, Matise T, Svrakic D, Pepple J, Malaspina D, Suarez B, Hampe C, Zambuto CT, Schmitt K, Meyer J, Markel P, Lee H, Harkavy-Friedman J, Kaufmann C, Cloninger CR, Tsuang MT. 1998. Genome scan of European-American schizophrenia pedigrees: results of the NIMH genetics initiative and millennium consortium. Am J Med Genet (Neuropsychiatr Genet) 81:290-295.
18. Freimer NB, Reus VI, Escamilla MA, McInnes LA, Spesny M, Leon P, Service SK, Smith LB, Silva S, Rojas E, Gallegos A, Meza L, Fournier E, Baharloo S, Blankenship D, Tyler DJ, Batki S, Vingradov S, Weissenbach J, Barondes SH, Sandkuijl LA. 1996. Genetic mapping using halotype, association linkage methods suggests a locus for severe bipolar disorder (bpi) at 18q22-q23. Nature Genet 12:436-441.
19. Friedrich U, Mors O, Ewald H. 1996. Systematic chromosome examination of two families with schizophrenia and two families with manic depressive illness. Am J Med Genet 67:58-62.
20. Garofalo G, Ragusa RM, Argiolas A, Scavuzzo C, Spina E, Barletta C. 1993. Evidence of chromosomal fragile sites in schizophrenic patients. Ann Genet 36:132-135.
21. Genest P, Dumas L, Genest FB. 1976. Translocation chromosomique t(2;18) (q21;q23) chez un individu schizophrène et sa fille. L'Union Médicale du Canada 105:1676-1681.
22. Goodman AB. 1998. Three independent lines of evidence suggest retinoids as causal to schizophrenia. Proc Natl Acad Sci 95:7240-7244.
23. Gordon CT, Krasnewich D, White B, Lenane M, Rapoport JL. 1994. Brief report: transloca-tion involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia. J Autism Dev Disord 24:537-545.
24. Gorwood P, Leboyer M, Hillaire D, Jay M, Carteault F, Dugain AM, Berg S, Bois E, Feingold J. 1991. Cytogenetic studies of familial schizophrenics. Biol Psychiatry 29:618-625.
25. Gothelf D, Frisch A, Munitz H, Rockah R, Aviram A, Mozes T, Birger M, Weizman A, Frydman M. 1997. Velocardiofacial manifestations and microdeletions in schizophrenic patients. Am J Med Genet 72:455-461.
26. Harmon RJ, Bender BG, Linden MG, Robinson A. 1998. Transition from adolescence to early adulthood: adaptation and psychiatric status of women with 47, XXX. J Am Acad Child Adolesc Psychiatry 37:286-291.
27. Karayiorgou M, Gogos JA, Galke BL, Jeffery JA, Nestadt G, Wolyniec PS, Antonarakis SE, Kazazian HH, Housman DE, Driscoll DA, Pulver AE. 1996. Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus. Cold Spring Harbor Symp Quant Biol 61:835-843.
28. Karayiorgou M, Gogos JA, Galke BL, Wolyniec PS, Nestadt G, Antonarakis SE, Kazazian HH, Housman DE, Pulver AE. 1998. Identification of sequence variants and analysis of the role of the catechol-O-methyl-transferase gene in schizophrenia susceptibility. Biol Psychiatry 43:425-431.
29. Karayiorgou M, Morris MA, Morrow B, Shprintzen RJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK, Eisen H, Childs B, Kazazian HH, Kucherlapati R, Antonarakis SE, Pulver AE, Housman DE. 1995. Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 92:7612-7616.
30. Kumra S, Wiggs E, Krasnewich D, Meck J, Smith ACM, Bedwell J, Fernandez T. L. J, Lenane M, Rapaport JL. 1998. Brief report: association of sex chromosome anomalies with childhood-onset psychotic disorders. J Am Acad Child Adolesc Psychiatry 37:292-296.
31. LaMantia A-S. 1999. Forebrain induction, retinoic acid, and vulnerability to schizophrenia: insights from molecular and genetic analysis in developing mice. Biol Psychiatry 46:19-30.
32. Lindsay S, Splitt M, Edney S, Berney TP, Knight SJL, Havies KE, O'Brien O, Gale M, Burn J. 1996. PPm-X: a new X-linked Mental Retardation Syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28. Am J Hum Genet 58:1120-1126.
33. Malaspina D, Warburton D, Amador X, Harris M, Kaufmann CA. 1992. Association of schizophrenia and partial trisomy of chromosome 5p: a case report. Schizophr Res 7:191-196.
34. Maziade M, Debraekeleer M, Genest P, Cliche D, Fournier J, Garneau Y, Shriqui C, Roy M, Nicole L, Raymond V, Vekemans M. 1993. A balanced 2:18 translocation and familial schizophrenia: falling short of an association. Arch Gen Psychiatry 50:73-75.
35. McGuffin P, Owen MJ, Farmer AE. 1995. Genetic basis of schizophrenia. Lancet 346: 678-682.
36. Mors O, Ewald H, Blackwood D, Muir W. 1997. Cytogenetic abnormalities on chromosome 18 associated with bipolar affective disorder or schizophrenia. Br J Psychiatry 170:278-280.
37. Murphy KC, Jones RG, Griffiths E, Thompson PW, Owen MJ. 1998. Chromosome 22q11 deletions. An under-recognized cause of idiopathic learning disability. Br J Psychiatry 172:180-183.
38. Murphy KC, Jones AL, Owen MJ. 1999. High rates of schizophrenia in velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940-945.
39. Nanko S, Kunugi H, Sasaki T, Fukuda R, Kawate T, Kazamatsuri H. 1993. Pericentric region of chromosome 9 is a possible candidate region for linkage study of schizophrenia. Biol Psychiatry 33:655-658.
40. Nicolson R, Giedd JN, Lenane M, Hamburger S, Singaracharlu S, Bedwell J, Fernandez T, Thaker GK, Malaspina D, Rapoport JL. 1999. Clinical and neurobiological correlates of cytogenetic abnormalities in childhood-onset schizophrenia. Am J Psychiatry 156:1575-1579.
41. Palmour RM, Miller S, Fielding A, Vekemans M, Ervin FR. 1994. A contribution to the differential diagnosis of the "group of schizophrenias": structural abnormality of chromosome 4. J Psychiatry Neurosci 19: 270-277.
42. Park JP, Moeschler JB, Berg SZ, Wurster-Hill DH. 1991. Schizophrenia and mental retardation in an adult male with a de novo interstitial deletion 9(q32q34.1). J Med Genet 28:282-283.
43. Propping P, Nothen MM. 1995. Schizophrenia: genetic tools for unraveling the nature of a complex disorder. Proc Natl Acad Sci USA 92:7607-7608.
44. Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolymec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D, Kucherlapati R. 1994. Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 182:476-478.
45. Schwab SG, Hallmayer J, Lerer B, Albus M, Borrmann M, Honig S, Straub M, Segman R, Lichtermann D, Knapp M, Trixler M, Maier W, Wildenauer DB. 1998. Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis. Am J Hum Genet 63:1139-1152.
46. Schwab SG, Wildenauer DB, Collier DA, Ekelund A, Gejman P, Hallmayer J, Kelsoe JR, von Gontard A, Wildenauer DB. 1999. Chromosome 22 workshop report. Am J Med Genet 88:276-278.
47. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. 1992. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 42:141-142. Letter.
48. Smith AB, Peterson P, Wieland J, Moriarty T, DeLisi LE. 1996. Chromosome 18 translocation (18;21) (p11.1;p11.1) associated with psychosis in one family. Am J Med Genet 67:560-563.
49. Straub RE, MacLean CJ, O'Neill FA, Walsh D, Kendler KS. 1997. Support for a possible schizophrenia vulnerability locus in region 5q22-31 in Irish families. Mol Psychiatry 2:148-155.
50. Turk J, Hill P. 1995. Behavioral phenotypes in dysmorphic syndromes. Clin Dysmorphol 4:105-115.
51. Woodhouse WJ, Holland AJ, McLean G, Reveley AM. 1992. The association between triple X and psychosis. Br J Psychiatry 160: 554-557.