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

TitleSchizophrenia and hypocalcaemia: Variable phenotype of deletion at chromosome 22q11
Authors
KeywordsDeletion at 22q11
Hypocalcaemia
Phenotype
Schizophrenia
Issue Date1999
PublisherInforma Healthcare. The Journal's web site is located at http://informahealthcare.com/anp
Citation
Australian And New Zealand Journal Of Psychiatry, 1999, v. 33 n. 5, p. 760-762 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/172757
ISSN
2023 Impact Factor: 4.0
2023 SCImago Journal Rankings: 1.643
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChow, LYen_US
dc.contributor.authorGarciaBarcelo, Men_US
dc.contributor.authorWing, YKen_US
dc.contributor.authorWaye, MMYen_US
dc.date.accessioned2012-10-30T06:24:45Z-
dc.date.available2012-10-30T06:24:45Z-
dc.date.issued1999en_US
dc.identifier.citationAustralian And New Zealand Journal Of Psychiatry, 1999, v. 33 n. 5, p. 760-762en_US
dc.identifier.issn0004-8674en_US
dc.identifier.urihttp://hdl.handle.net/10722/172757-
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.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://informahealthcare.com/anpen_US
dc.relation.ispartofAustralian and New Zealand Journal of Psychiatryen_US
dc.subjectDeletion at 22q11-
dc.subjectHypocalcaemia-
dc.subjectPhenotype-
dc.subjectSchizophrenia-
dc.subject.meshAdulten_US
dc.subject.meshChromosome Deletionen_US
dc.subject.meshChromosomes, Human, Pair 22 - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshHypocalcemia - Complicationsen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshSchizophrenia - Complicationsen_US
dc.subject.meshSyndromeen_US
dc.titleSchizophrenia and hypocalcaemia: Variable phenotype of deletion at chromosome 22q11en_US
dc.typeArticleen_US
dc.identifier.emailGarciaBarcelo, M: mmgarcia@hkucc.hku.hken_US
dc.identifier.authorityGarciaBarcelo, M=rp00445en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1046/j.1440-1614.1999.00617.xen_US
dc.identifier.pmid10545003-
dc.identifier.scopuseid_2-s2.0-0032829232en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0032829232&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume33en_US
dc.identifier.issue5en_US
dc.identifier.spage760en_US
dc.identifier.epage762en_US
dc.identifier.isiWOS:000083616200022-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChow, LY=7202533095en_US
dc.identifier.scopusauthoridGarciaBarcelo, M=6701767303en_US
dc.identifier.scopusauthoridWing, YK=21535991900en_US
dc.identifier.scopusauthoridWaye, MMY=7006687733en_US
dc.identifier.issnl0004-8674-

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