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Background: Nowadays, despite a large number of studies about schizophrenia and genetics, clinical red flags for syndromic forms of schizophrenia remain poorly documented.
Methods: This study aims to validate a short clinical screening grid for syndromic forms of schizophrenia linked to a pathogenic Copy Variation Number (CNV). The investigators plan to include 150 patients with defined (DSM V) schizophrenia and aged 15 years and more. The clinical grid will be prospectively fulfilled for every patients on the basis of his/her medical history and clinical examination. Array comparative genomic hybridization (CGH-a) will be performed on jugal mucosae sample to detect precisely syndromic forms of schizophrenia linked to the presence of a pathogenic Copy Number Variation (CNV). In subjects with no CNV that may explain the onset of schizophrenia, the investigators would like to complete the investigations with exome trio sequencing. With this type of very clinical approach, the investigators wish to determine which semiological elements should alert the psychiatrists as to the presence of a syndromic form. The objective is to propose at the end of this study a simple and reliable scale, usable in psychiatry consultation, to guide the genetic screening of forms of syndromic schizophrenia.
Age
15 - No limit years
Sex
ALL
Healthy Volunteers
No
CH Le Vinatier
Bron, Auvergne-Rhône-Alpes, France
Start Date
July 1, 2016
Primary Completion Date
February 1, 2023
Completion Date
December 20, 2023
Last Updated
March 6, 2025
129
ACTUAL participants
Array comparative genomic hybridization
GENETIC
Lead Sponsor
Hôpital le Vinatier
Collaborators
NCT07455929
NCT06740383
Data Source & Attribution
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