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Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?

Please always quote using this URN: urn:nbn:de:bvb:20-opus-134769
  • With the introduction of new genetic techniques such as genome-wide array comparative genomic hybridization, studies on the putative genetic etiology of schizophrenia have focused on the detection of copy number variants (CNVs), ie, microdeletions and/or microduplications, that are estimated to be present in up to 3% of patients with schizophrenia. In this study, out of a sample of 100 patients with psychotic disorders, 80 were investigated by array for the presence of CNVs. The assessment of the severity of psychiatric symptoms was performedWith the introduction of new genetic techniques such as genome-wide array comparative genomic hybridization, studies on the putative genetic etiology of schizophrenia have focused on the detection of copy number variants (CNVs), ie, microdeletions and/or microduplications, that are estimated to be present in up to 3% of patients with schizophrenia. In this study, out of a sample of 100 patients with psychotic disorders, 80 were investigated by array for the presence of CNVs. The assessment of the severity of psychiatric symptoms was performed using standardized instruments and ICD-10 was applied for diagnostic classification. In three patients, a submicroscopic CNV was demonstrated, one with a loss in 1q21.1 and two with a gain in 1p13.3 and 7q11.2, respectively. The association between these or other CNVs and schizophrenia or schizophrenia-like psychoses and their clinical implications still remain equivocal. While the CNV affected genes may enhance the vulnerability for psychiatric disorders via effects on neuronal architecture, these insights have not resulted in major changes in clinical practice as yet. Therefore, genome-wide array analysis should presently be restricted to those patients in whom psychotic symptoms are paired with other signs, particularly dysmorphisms and intellectual impairment.show moreshow less

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Metadaten
Author: Noortje W. A. Van de Kerkhof, Ilse Feenstra, Frank M. M. A. van der Heijden, Nicole de Leeuw, Rolph Pfundt, Gerald Stöber, Jos I. M. Egger, Willem M. A. Verhoeven
URN:urn:nbn:de:bvb:20-opus-134769
Document Type:Journal article
Faculties:Medizinische Fakultät / Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie
Language:English
Parent Title (English):Neuropsychiatric Disease and Treatment
Year of Completion:2012
Volume:8
Pagenumber:295-300
Source:Neuropsychiatric Disease and Treatment 2012:8 295–300. doi:10.2147/NDT.S32903
DOI:https://doi.org/10.2147/NDT.S32903
Dewey Decimal Classification:6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 616 Krankheiten
Tag:1p13.3; 1q21; 7q11.2; association; copy number variants; environment; gene; microarrays; microdeletion; perspectives; polymorphisms; psychopathology; schizophrenia; spectrum disorders
Release Date:2017/12/17
Licence (German):License LogoCC BY-NC: Creative-Commons-Lizenz: Namensnennung, Nicht kommerziell