Literature DB >> 9375731

Velocardiofacial manifestations and microdeletions in schizophrenic inpatients.

D Gothelf1, A Frisch, H Munitz, R Rockah, A Aviram, T Mozes, M Birger, A Weizman, M Frydman.   

Abstract

Velocardiofacial syndrome (VCFS) is associated with an increased frequency of schizophrenia and other types of psychiatric morbidity. In this study, we tried to identify a subgroup of schizophrenic patients with deletions in the VCFS region of the long arm of chromosome 22. For that purpose, we screened the records of two major general hospitals for patients with abnormalities characteristic of VCFS, such as cardiac anomalies and cleft palate, and cross-checked the data with the register of psychiatric hospitalizations in four psychiatric hospitals. Of the 24 patients that qualified, only seven patients could be studied. An additional eight schizophrenic inpatients were ascertained clinically, based on a working VCFS Clinical Scale. FISH studies and molecular analyses, using polymorphic markers from the VCFS region, documented hemizygosity of 22q11 in three out of 15 patients (20.0%). Increased awareness of psychiatrists to signs of VCFS among patients with psychiatric illnesses is encouraged, in order to direct molecular studies effectively. In order to cut down the cost of testing, we suggest screening suspected patients with a single marker, such as D22S941, and to study further only those who have a single electrophoretic band.

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Mesh:

Year:  1997        PMID: 9375731

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  19 in total

Review 1.  Genetic abnormalities of chromosome 22 and the development of psychosis.

Authors:  Nigel M Williams; Michael J Owen
Journal:  Curr Psychiatry Rep       Date:  2004-06       Impact factor: 5.285

2.  Commentary on Treatment Resistant Psychosis in an adolescent with scoliosis and a history of early feeding difficulties.

Authors:  Andrea Stachon
Journal:  J Can Acad Child Adolesc Psychiatry       Date:  2007-02

Review 3.  Neurodevelopment, GABA system dysfunction, and schizophrenia.

Authors:  Martin J Schmidt; Karoly Mirnics
Journal:  Neuropsychopharmacology       Date:  2014-04-24       Impact factor: 7.853

Review 4.  22q11 deletion syndrome: a genetic subtype of schizophrenia.

Authors:  A S Bassett; E W Chow
Journal:  Biol Psychiatry       Date:  1999-10-01       Impact factor: 13.382

5.  Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.

Authors:  E W Chow; D J Mikulis; R B Zipursky; L E Scutt; R Weksberg; A S Bassett
Journal:  Biol Psychiatry       Date:  1999-11-15       Impact factor: 13.382

Review 6.  Phenotype of adults with the 22q11 deletion syndrome: A review.

Authors:  E Cohen; E W Chow; R Weksberg; A S Bassett
Journal:  Am J Med Genet       Date:  1999-10-08

Review 7.  A biologic model to study the genetics of psychotic, mood, and anxiety disorders: the velocardiofacial syndrome.

Authors:  Edith M Jolin; Elizabeth B Weller; Ronald A Weller
Journal:  Curr Psychiatry Rep       Date:  2006-04       Impact factor: 5.285

Review 8.  Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders.

Authors:  Jonathan Sebat; Deborah L Levy; Shane E McCarthy
Journal:  Trends Genet       Date:  2009-10-31       Impact factor: 11.639

9.  Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

Authors:  Fabíola P Monteiro; Társis P Vieira; Ilária C Sgardioli; Miriam C Molck; Ana Paula Damiano; Josiane Souza; Isabella L Monlleó; Marshall I B Fontes; Agnes C Fett-Conte; Têmis M Félix; Gabriela F Leal; Erlane M Ribeiro; Claudio E M Banzato; Clarissa de R Dantas; Iscia Lopes-Cendes; Vera Lúcia Gil-da-Silva-Lopes
Journal:  Eur J Pediatr       Date:  2013-02-26       Impact factor: 3.183

Review 10.  Schizophrenia and 22q11.2 deletion syndrome.

Authors:  Anne S Bassett; Eva W C Chow
Journal:  Curr Psychiatry Rep       Date:  2008-04       Impact factor: 5.285

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