Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases
| dc.authorid | Cokyaman, Turgay/0000-0002-7108-6839 | |
| dc.contributor.author | Cokyaman, Turgay | |
| dc.contributor.author | Sılan, Fatma | |
| dc.date.accessioned | 2025-01-27T20:39:10Z | |
| dc.date.available | 2025-01-27T20:39:10Z | |
| dc.date.issued | 2022 | |
| dc.department | Çanakkale Onsekiz Mart Üniversitesi | |
| dc.description.abstract | Introduction: We evaluated the contribution of array comparative genomic hybridization (aCGH) to the final diagnosis in children with neurocognitive disturbances or dysmorphic findings, but lacked a specific diagnosis. Materials and methods: Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively. Results: Of 155 patients, 77 copy number variations were detected and 50% (39/77) were considered causative. The aCGH's final diagnostic rate was 25.1% (39/155). Conclusion: With aCGH analysis, the diagnosis rate for patients with undiagnosed neurocognitive disturbances or dysmorphic syndrome may increase by 25-30%. If the phenotypic findings of the widely known neurocognitive disturbances cannot be identified during the initial clinical assessment, aCGH analysis may be beneficial. | |
| dc.identifier.doi | 10.1080/15513815.2020.1764683 | |
| dc.identifier.endpage | 76 | |
| dc.identifier.issn | 1551-3815 | |
| dc.identifier.issn | 1551-3823 | |
| dc.identifier.issue | 1 | |
| dc.identifier.pmid | 32401632 | |
| dc.identifier.scopus | 2-s2.0-85085505221 | |
| dc.identifier.scopusquality | Q2 | |
| dc.identifier.startpage | 68 | |
| dc.identifier.uri | https://doi.org/10.1080/15513815.2020.1764683 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12428/23880 | |
| dc.identifier.volume | 41 | |
| dc.identifier.wos | WOS:000534176200001 | |
| dc.identifier.wosquality | Q4 | |
| dc.indekslendigikaynak | Web of Science | |
| dc.indekslendigikaynak | Scopus | |
| dc.indekslendigikaynak | PubMed | |
| dc.language.iso | en | |
| dc.publisher | Taylor & Francis Inc | |
| dc.relation.ispartof | Fetal and Pediatric Pathology | |
| dc.relation.publicationcategory | info:eu-repo/semantics/openAccess | |
| dc.rights | info:eu-repo/semantics/closedAccess | |
| dc.snmz | KA_WoS_20250125 | |
| dc.subject | array comparative genomic hybridization | |
| dc.subject | intellectual disability | |
| dc.subject | neurodevelopmental delay | |
| dc.title | Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases | |
| dc.type | Article |
