Velo-cardio-facial syndrome, schizophrenia at chromosome 22q11

Journal of Intellectual Disability Research

Volumn 42, Issue 2, 1998, Pages 184-188

  Chow, L Y ^a,b   Waye, M M Y ^a   Garcia Barcelo, M ^a   Chiu, H F K ^a   Fung, K P ^a   Lee, C Y ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

CATCH 22; Deletion 22q11; Schizophrenia; Velo cardio facial syndrome

Indexed keywords

HALOPERIDOL; NEUROLEPTIC AGENT;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME DELETION; CLEFT PALATE; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPOCALCEMIA; MALE; SCHIZOPHRENIA; SOFT PALATE; VELOCARDIOFACIAL SYNDROME;

ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; CRANIOFACIAL ABNORMALITIES; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; SCHIZOPHRENIA; SYNDROME; UVULA;

EID: 0031824906     PISSN: 09642633     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2788.1998.00109.x     Document Type: Article

References (27)

1. American Psychiatric Association (APA) (1987) Diagnostic and Statistical Manual of Mental Disorders, Third Edition, Revised. APA, Washington, DC.
2. Carey A. H., Kelly D., Halford S., Wadey R., Wilson D., Goodship J., Burn J., Paul T., Sharkey A., Dumanski J., Nordenskjold M., Williamson R. & Scambler P. J. (1992) Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge Syndrome. American Journal of Human Genetics 51, 964-70.
3. Chow E. W. C., Bassett A. S., Weksberg R. (1994) Velo-cardio-facial syndrome and psychotic disorders: implication for psychiatric genetics. American Journal of Medical Genetics 54, 107-12.
4. Demczuk S. & Aurias A. (1995) DiGeorge syndrome and related syndromes associated with 22q11.2 deletions. A review. Annales de Genetique 38, 59-76.
5. Driscoll A. D., Salvin J., Sellinger B., Budarf M. L., McDonald-McGinn D. M., Zackai E. H. & Emanuel B. S. (1993) Prevalence of 22q11 microdeletions in DiGeorge and syndrome: implications for genetic counselling and prenatal diagnosis. Journal of Medical Genetics 30, 813-7.
6. Goldberg R., Motzkin B., Marion R., Scambler P. J. & Shprintzen R. J. (1993) Velo-cardio-facial syndrome: a review of 120 patients. American Journal of Medical Genetics 45, 313-19.
7. Golding-Kushner K. J., Weller G. & Shprintzen R. J. (1985) Velo-cardio-facial syndrome: language and psychological profiles. Journal of Craniofacial Genetics and Developmental Biology 5, 259-66.
8. Greenberg F., Elder F. F. B., Haffner P., Northrup H. & Ledbetter D. (1988) Cytogenetic findings in a prospective series of patients with DiGeorge anomaly. Human Genetics 43, 605-11.
9. Greig F., Paul E., DiMartino-Nardi J. & Saenger P. (1996) Transient congenital hypoparathyroidism: resolution and recurrence in chromosome 22q11 deletion. Journal of Pediatrics 128, 563-7.
10. Hasegawa T., Hasegawa Y., Yokoyama T., Koto S., Asamura S. & Tsuchiya Y. (1993) Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion. European Journal of Pediatrics 152, 316-18.
11. Karayiorgou M., Morris M. A., Morrow B., Shprintzen R. J., Goldberg R., Borrow J., Gos A., Nestadt G., Wolyniec P. S., Lasseter V. K., Eisen H., Childs B., Kazazian H. H., Kucherlapati R., Antonarakis S. E., Pulver A. E. & Houseman D. E. (1995) Schizophrenia susceptibility associated with interstitial deletion of Chromosome 22q 11. Proceedings of the National Academy of Sciences of the USA 92, 7612-16.
12. Lindsay E. A., Greenberg F., Shaffer L. G., Shapira S. K., Scambler P. J. & Baldini A. (1995) Submicroscopic deletions at 22q11.2: variability of the clinical picture and delineation of a commonly deleted region. American Journal of Medical Genetics 56, 191-7.
13. Lipson A. H., Yuille D., Angel M., Thompson P. J., Vandervoord J. G. & Beckenham E. J. (1991) Velo-cardio-facial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. Journal of Medical Genetics 28, 596-604.
14. Murphy K. C. & Owen M. J. (1996) Schizophrenia, CATCH 22 and FISH. British Journal of Psychiatry 168, 397-8.
15. Papolos D. F., Faedda G., Veit S., Goldberg R., Morrow B., Kucherlapati R. & Shprintzen R. (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, 1541-7.
16. Parsons J. A., May J. G. & Menolascino F. J. (1984) The nature and incidence of mental illness in mentally retarded individuals. In: Handbook of Mental Illness in the Mentally Retarded (eds F. J. Menolascino & J. A. Stark), pp. 3-43. Plenum Press, New York, NY.
17. Pulver A. E., Nestadt G., Goldberg R., Shprintzen R., Lamacz M., Wolyniec P. S., Morrow B., Karayiorgou M., Antonarakis S. E., Houseman D. & Kucherlapati R. (1994) Psychotic illness in patients diagnosed with Velo-cardio-facial syndrome and their relatives. Journal of Nervous and Mental Disease 182, 476-8.
18. Scambler P. J., Kelly D., Lindsay E., Williamson R., Goldberg R., Shprintzen R., Wilson D., Goodship J., Cross I. & Burn J. (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 339, 1138-9.
19. Schizophrenia Collaborative Linkage Group (1996) A combined analysis of D22S278 marker alleles in affected sib pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. American Journal of Medical Genetics 56, 191-7.
20. Scire G., Dallapiccola B., Iannetti P., Bonaiuto F., Galasso C., Mingarelli R. & Boscherini B. (1994) Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions. American Journal of Medical Genetics 52, 478-82.
21. Shprintzen R. J. (1990) Velo-cardio-facial syndrome. In: Birth Defects Encyclopedia (ed. M. L. Buyse), pp. 1744-5. Blackwell Scientific Publications, Oxford.
22. Shprintzen R. J., Goldberg R. B., Lewin M. L., Sidoti E. J., Berkman M. D., Argamaso R. V. & Young D. (1978) A new syndrome involving deft palate, cardiac anomalies, typical facies and learning disabilities: velo-cardio-facial syndrome. Cleft Palate Journal 15, 56-62.
23. Shprintzen R. J., Goldberg R., Golding-Kushner K. J. & Marion R. W. (1992) Late-onset psychosis in the velo-cardio-facial syndrome. American Journal of Medical Genetics 42, 141-2.
24. Stevens C. A., Carey J. C. & Shigeoka A. O. (1990) DiGeorge anomaly and velo-cardio-facial syndrome. Pediatrics 85, 526-30.
25. Wechsler D. (1981) WAIS-R Manual. Psychological Corporation, New York, NY.
26. Wilson D. I., Burn J., Scambler P. & Goodship J. (1993) DiGeorge syndrome: part of CATCH 22. Journal of Medical Genetics 30, 852-6.
27. Wilson D. I., Cross I. E., Wren C., Scambler P. J., Burn J. & Goodship J. (1994) Minimum prevalence of Chromosome 22q 11 deletions. American Journal of Human Genetics 55(Suppl.), A975.