Diagnostic Utility of Chromosomal Microarray Analysis in a Turkish Pediatric Cohort: Insights from 1,022 Patients with Neurodevelopmental Disorders and Congenital Anomalies
CMA is a powerful diagnostic tool in the evaluation of pediatric patients with neurodevelopmental and structural disorders. This study emphasizes the added value of high-resolution CNV detection and careful clinical phenotyping to optimize diagnostic yield and guide precision care in clinically heterogeneous pediatric populations.
Authors
- Özlem Sezer (ORCID: https://orcid.org/0000-0001-5727-7965)
- Aslıhan Sanrı (ORCID: https://orcid.org/0000-0003-1898-0898)
- Mehmet Burak Mutlu (ORCID: https://orcid.org/0000-0001-7745-8165)
Institutions
- Samsun University (TR)
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Cytogenetic and Genome Research
- Published
- 2025-11-06
- DOI
- https://doi.org/10.1159/000549248
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00