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Published online by Cambridge University Press: 16 April 2020
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/Sex | Previous diagnosis | Genetics | Final diagnosis |
---|---|---|---|
58/f | psychosis | HHT1(ALK-1) | manic episode |
20/m | antisocial personality dis | del22q11 | VCFS psychiatr syndr |
23/m | recurrent psychosis | del22q11 | VCFS2 psychiatr syndr |
23/m | recurrent psychosis | Klinefelter XXY | atypical psychosis |
70/f | paranoid syndrome, OCD | del22q11 | VCFS psychiatr syndr |
57/m | recurrent depression | translocation 13;14 | testosteron deficiency |
40/f | anxiety\borderline disorder | proximal 16p dupl | PDDNOS |
31/f | recurrent psychosis | translocation 2;10 | atypical psychosis |
81/f | none | balanced transl X;19 | psychotic depression |
68/f | schizophrenia | trisomy 8 mosaicism | cycloid psychosis |
21/m | XXY | XXY/PWS/UPD3 | PWS psychiatr syndr |
36/m | PDDNOS | del22q11 | VCFS psychiatr syndr |
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