Hostname: page-component-586b7cd67f-tf8b9 Total loading time: 0 Render date: 2024-11-25T22:44:54.222Z Has data issue: false hasContentIssue false
  • English
  • Français

Molecular diagnosis of cytogenetic abnormalities in patients with schizophrenia

Published online by Cambridge University Press:  01 September 2022

M. Bar Shai ,
A. Peleg  and
T. Zalozhin
M. Bar Shai*
Affiliation:
Carmel Medical Center, Clalit Healthcare Service, Psychiatry, Genetics, Haifa, Israel
A. Peleg
Affiliation:
Genetics, Carmel Medical Center, Clalit Healthcare Service, Haifa, Israel, Genetics, Carmel Medical Center, Clalit Healthcare Service, Haifa, Israel, Haifa, Israel
T. Zalozhin
Affiliation:
Genetics, Carmel Medical Center, Clalit Healthcare Service, Haifa, Israel, Genetics, Carmel Medical Center, Clalit Healthcare Service, Haifa, Israel, Haifa, Israel
*
*Corresponding author.

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Introduction

Schizophrenia is a severe and chronic disorder causing significant disability and functional decline. Schizophrenia is a polygenic disease, with about 100 monogenic sites and 11 sites of chromosomal deletions / duplications involved in its pathogenesis identified. It is a pleiotropic disease, with causative genetic changes leading to multiple symptoms, including bipolar disorder, autism spectrum disorders, ADHD, mental retardation and epilepsy. The chromosomal microarray (CMA) technology detects submicroscopic chromosomal changes, which are involved in neurodevelopmental disorders, and are subject to prenatal diagnosis. Pathological findings in CMA are detected in 10-20% of patients with neurodevelopmental disorders and can contribute significantly to medical follow-up, prognosis assessment, influence treatment choice, and allow prenatal diagnosis. Preliminary studies in schizophrenia identified pathological CMA findings in 10–30% of patients.

Objectives

CMA testing of schizophrenia patients to detect genetic changes causing the disease.

Methods

Recruitment of schizophrenia patients from the Haifa and Western Galilee districts of Clalit, genetic counseling in Carmel Hospital, CMA testing of the consenting patients.

Results

Schizophrenia patients with and without neurodevelopmental disorders underwent CMA analysis, with the findings of significant chromosomal submicroscopic disorders (such as 22q11 microdeletion, among others) in 30% of the patients, providing the explanation for the patients’ symptoms and enabling specific medical follow-up and adjusted pharmacological treatment.

Conclusions

CMA can be used in diagnosing schizophrenia, assessing prognosis, adjusting pharmacological treatment and follow-up and providing genetic counseling including prenatal diagnosis, as in cases neurodevelopmental disorders. The findings support the application of CMA as part of a routine procedures in schizophrenia.

Disclosure

No significant relationships.

Keywords

SchizophreniaCromosomal abnormalitiesCMAdiagnosis
Type
Abstract
Information
European Psychiatry , Volume 65 , Special Issue S1: Abstracts of the 30th European Congress of Psychiatry , June 2022 , pp. S287
Creative Commons
Creative Common License - CCCreative Common License - BY
This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited.
Copyright
© The Author(s), 2022. Published by Cambridge University Press on behalf of the European Psychiatric Association
Submit a response

Comments

No Comments have been published for this article.