RE-EVALUATION OF COPY NUMBER VARIATIONS IN NEUROPSYCHIATRIC DISORDERS
Journal Title: Kocatepe Medical Journal - Year 2021, Vol 1, Issue 22
Abstract
OBJECTIVE: Chromosome segment variations involving more than 50 bases are called Copy Number Variations (CNV). Chromosomal microarray method is used to detect CNVs in a routine practice. Chromosomal microarray analysis (CMA) is a first-tier test in the evaluation of individuals with intellectual disability and developmental delay with the diagnostic yield ranging from 5 to 20% varying based on population examined. The International Standard for the Consortium of Cytogenomic Array recommended CMA as a first-stage cytogenetic diagnostic test for patients with CA and ID / GDD. This study aimed to compare the standard and new high resolution analyze methods. MATERIAL AND METHODS: Our study was carried out with retrospective evaluation of 500 patients with CMA with different indications with Affymetrix Cytoscan Optima chips in Ankara Atatürk Research and Education Hospital. RESULTS: In the standard analysis method, 313 CNVs was detected at 298 patients. New analyze method detected 939 CNVs at 362 patients. Standard analysis method could not detect 3 pathogenic CNVs which were below 100-Kb. While in the standard analysis, 56 pathogenicCNVs was found in the new analysis method. The number of CNVs classified as unknown clinically was 105 in thestandard method and 318 in the new analysis method. In addition, 12 CNVs with a frequency of more than 1% were detected in our study. CONCLUSIONS: Although the new method has increased the diagnostic percentage of the test from 10.7 to 11.3, it increases the clinical significance and increases the false positive results. This has led to a higher sensitivity of the analysis, but has led to an increase in both the duration of the analysis and other results that can be called artifacts in the test. In addition, 10 CNVs which are relatively common in Turkish population have been reported in our study.
Authors and Affiliations
Ahmet Cevdet CEYLAN, Haktan Bağış ERDEM
Keywords
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- EP ID EP697484
- DOI https://doi.org/10.18229/kocatepetip.669074
- Views 107
- Downloads 0
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