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P0103 - Chromosomal abnormalities in psychiatry: Expanding the diagnostic process

Published online by Cambridge University Press:  16 April 2020

W.M. Verhoeven
Affiliation:
Department of Clinical Research, Vincent Van Gogh Institute for Psychiatry, Venray, The Netherlands
S. Tuinier
Affiliation:
Department of Clinical Research, Vincent Van Gogh Institute for Psychiatry, Venray, The Netherlands
J.I. Egger
Affiliation:
Department of Clinical Research, Vincent Van Gogh Institute for Psychiatry, Venray, The Netherlands

Abstract

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Clinical psychiatry is confronted with the rapid expansion of the diagnostic facilities of molecular genetics and should therefore reconsider its basic diagnostic procedures. Psychiatric diagnosis should be supplemented by information about birth, developmental history, dysmorphias, congenital malformations, somatic anomalies and family history of both psychopathology and genetic disorders. In addition it should be stressed that psychiatric symptoms in genetic syndromes mostly represent a specific psychopathological phenotype, that does not meet categorical criteria. Recently, several genetic syndromes were found in a number of routinely referred adult patients. In none of the patients genetic analysis was considered previously. Some examples are presented. In all cases the genetic diagnosis had a major impact on the psychiatric diagnosis and treatment. It is concluded that psychiatrists have some knowledge about dysmorphias, relevant developmental issues and basis clinical genetics.

Age/SexPrevious diagnosisGeneticsFinal diagnosis
58/fpsychosisHHT1(ALK-1)manic episode
20/mantisocial personality disdel22q11VCFS psychiatr syndr
23/mrecurrent psychosisdel22q11VCFS2 psychiatr syndr
23/mrecurrent psychosisKlinefelter XXYatypical psychosis
70/fparanoid syndrome, OCDdel22q11VCFS psychiatr syndr
57/mrecurrent depressiontranslocation 13;14testosteron deficiency
40/fanxiety\borderline disorderproximal 16p duplPDDNOS
31/frecurrent psychosistranslocation 2;10atypical psychosis
81/fnonebalanced transl X;19psychotic depression
68/fschizophreniatrisomy 8 mosaicismcycloid psychosis
21/mXXYXXY/PWS/UPD3PWS psychiatr syndr
36/mPDDNOSdel22q11VCFS psychiatr syndr

Type
Poster Session III: Diagnoses And Classification
Copyright
Copyright © European Psychiatric Association 2008
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