Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridBOZATLI, Leyla/0000-0002-4701-4835
dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridEKER, DAMLA/0000-0001-7563-118X
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidBOZATLI, Leyla/B-1442-2019
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.contributor.authorGurkan, Hakan
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorBozatli, Leyla
dc.contributor.authorAltay, Menguhan Araz
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorOzen, Yasemin
dc.date.accessioned2024-06-12T10:58:33Z
dc.date.available2024-06-12T10:58:33Z
dc.date.issued2020
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: Aneuploids, copy number variations (CNVs), and single nucleotide variants in specific genes are the main genetic causes of developmental delay (DD) and intellectual disability disorder (IDD). These genetic changes can be detected using chromosome analysis, chromosomal microarray (CMA), and next-generation DNA sequencing techniques. Therefore; In this study, we aimed to investigate the importance of CMA in determining the genomic etiology of unexplained DD and IDD in 123 patients. Method: For 123 patients, chromosome analysis, DNA fragment analysis and microarray were performed. Conventional G-band karyotype analysis from peripheral blood was performed as part of the initial screening tests. FMR1 gene CGG repeat number and methylation analysis were carried out to exclude fragile X syndrome. Results: CMA analysis was performed in 123 unexplained IDD/DD patients with normal karyotypes and fragile X screening, which were evaluated by conventional cytogenetics. Forty-four CNVs were detected in 39 (39/123=31.7%) patients. Twelve CNV variant of unknown significance (VUS) (9.75%) patients and 7 CNV benign (5.69%) patients were reported. In 6 patients, one or more pathogenic CNVs were determined. Therefore, the diagnostic efficiency of CMA was found to be 31.7% (39/123). Conclusion: Today, genetic analysis is still not part of the routine in the evaluation of IDD patients who present to psychiatry clinics. A genetic diagnosis from CMA can eliminate genetic question marks and thus alter the clinical management of patients. Approximately one-third of the positive CMA findings are clinically intervenable. However, the emergence of CNVs as important risk factors for multiple disorders increases the need for individuals with comorbid neurodevelopmental conditions to be the priority where the CMA test is recommended.en_US
dc.identifier.doi10.29399/npa.24890
dc.identifier.endpage191en_US
dc.identifier.issn1300-0667
dc.identifier.issn1309-4866
dc.identifier.issue3en_US
dc.identifier.pmid32952419en_US
dc.identifier.scopus2-s2.0-85092464482en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage177en_US
dc.identifier.trdizinid373412en_US
dc.identifier.urihttps://doi.org/10.29399/npa.24890
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/373412
dc.identifier.urihttps://hdl.handle.net/20.500.14551/20092
dc.identifier.volume57en_US
dc.identifier.wosWOS:000575560600003en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherTurkish Neuropsychiatry Assoc-Turk Noropsikiyatri Dernegien_US
dc.relation.ispartofNoropsikiyatri Arsivi-Archives Of Neuropsychiatryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCopy Number Variationsen_US
dc.subjectChromosomal Microarrayen_US
dc.subjectDevelopmental Delayen_US
dc.subjectIntellectual Developmental Disorderen_US
dc.subjectMental Retardationen_US
dc.subjectGenetic Testingen_US
dc.subjectComparative Genomic Hybridizationen_US
dc.subjectQuality-Standards-Subcommitteeen_US
dc.subject15q Overgrowth Syndromeen_US
dc.subjectInterstitial Deletionen_US
dc.subjectMental-Retardationen_US
dc.subjectPractice-Committeeen_US
dc.subjectCost-Effectivenessen_US
dc.subjectInversus Syndromeen_US
dc.subjectAmerican-Academyen_US
dc.subjectDuplicationen_US
dc.titleChromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disordersen_US
dc.typeArticleen_US

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