Article: Schizophrenia and hypocalcaemia: Variable phenotype of deletion at chromosome 22q11

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TitleSchizophrenia and hypocalcaemia: Variable phenotype of deletion at chromosome 22q11
AuthorsChow, LY1 2
GarciaBarcelo, M1 2
Wing, YK1 2
Waye, MMY1 2
Issue Date1999
PublisherInforma Healthcare. The Journal's web site is located at http://informahealthcare.com/anp
CitationAustralian And New Zealand Journal Of Psychiatry, 1999, v. 33 n. 5, p. 760-762 [How to Cite?]
DOI: http://dx.doi.org/10.1046/j.1440-1614.1999.00617.x
AbstractObjective: The aim of this paper is to report the diagnosis of velo-cardio-facial syndrome (VCFS) in a patient presenting with schizophrenia and hypocalcaemia. Screening of deletion 22q11 in patients with schizophrenia is discussed. Clinical picture: We report a schizophrenic patient presenting with hypocalcaemia as the only feature of VCFS. Deletion 22q11 was confirmed by fluorescent in situ hybridisation (FISH). Treatment: The patient was treated with haloperidol 3 mg/day with resolution of psychotic symptoms. Outcome: The patient harboured some residual psychotic symptoms probably related to her irregular compliance. Conclusions: The wide range of phenotypic variability of VCFS makes screening of 22q11 deletion in schizophrenia difficult. It is proposed that screening of 22q11 deletion in schizophrenia should be selectively targeted only at patients with specific features of VCFS highly predictive of the presence of 22q11 deletion.
ISSN0004-8674
2011 Impact Factor: 2.929
2011 SCImago Journal Rankings: 0.112
DOIhttp://dx.doi.org/10.1046/j.1440-1614.1999.00617.x
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorChow, LY
dc.contributor.authorGarciaBarcelo, M
dc.contributor.authorWing, YK
dc.contributor.authorWaye, MMY
dc.date.accessioned2012-10-30T06:24:45Z
dc.date.available2012-10-30T06:24:45Z
dc.date.issued1999
dc.description.abstractObjective: The aim of this paper is to report the diagnosis of velo-cardio-facial syndrome (VCFS) in a patient presenting with schizophrenia and hypocalcaemia. Screening of deletion 22q11 in patients with schizophrenia is discussed. Clinical picture: We report a schizophrenic patient presenting with hypocalcaemia as the only feature of VCFS. Deletion 22q11 was confirmed by fluorescent in situ hybridisation (FISH). Treatment: The patient was treated with haloperidol 3 mg/day with resolution of psychotic symptoms. Outcome: The patient harboured some residual psychotic symptoms probably related to her irregular compliance. Conclusions: The wide range of phenotypic variability of VCFS makes screening of 22q11 deletion in schizophrenia difficult. It is proposed that screening of 22q11 deletion in schizophrenia should be selectively targeted only at patients with specific features of VCFS highly predictive of the presence of 22q11 deletion.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationAustralian And New Zealand Journal Of Psychiatry, 1999, v. 33 n. 5, p. 760-762 [How to Cite?]
DOI: http://dx.doi.org/10.1046/j.1440-1614.1999.00617.x
dc.identifier.doihttp://dx.doi.org/10.1046/j.1440-1614.1999.00617.x
dc.identifier.epage762
dc.identifier.issn0004-8674
2011 Impact Factor: 2.929
2011 SCImago Journal Rankings: 0.112
dc.identifier.issue5
dc.identifier.pmid10545003
dc.identifier.scopuseid_2-s2.0-0032829232
dc.identifier.spage760
dc.identifier.urihttp://hdl.handle.net/10722/172757
dc.identifier.volume33
dc.languageeng
dc.publisherInforma Healthcare. The Journal's web site is located at http://informahealthcare.com/anp
dc.publisher.placeUnited Kingdom
dc.relation.ispartofAustralian and New Zealand Journal of Psychiatry
dc.relation.referencesReferences in Scopus
dc.subject.meshAdult
dc.subject.meshChromosome Deletion
dc.subject.meshChromosomes, Human, Pair 22 - Genetics
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshHypocalcemia - Complications
dc.subject.meshPhenotype
dc.subject.meshSchizophrenia - Complications
dc.subject.meshSyndrome
dc.titleSchizophrenia and hypocalcaemia: Variable phenotype of deletion at chromosome 22q11
dc.typeArticle
Author Affiliations
  1. Prince of Wales Hospital Hong Kong
  2. Chinese University of Hong Kong