Diagnostic yield of array-CGH in children with suspected rare disease
The diagnostic yield of aCGH in this study was 12.2%. The test demonstrated higher diagnostic value in patients with multiple clinical manifestations, highlighting the importance of aCGH as a first-line diagnostic tool for rare diseases. This technique enables earlier diagnosis, improves clinical management, and provides better counseling for affected families.
Authors
- Elena Marcos-Vadillo (ORCID: https://orcid.org/0000-0003-1016-8395)
- María Isidoro‐García (ORCID: https://orcid.org/0000-0002-9013-9422)
- Pablo Prieto‐Matos (ORCID: https://orcid.org/0000-0003-2680-3285)
- Ramón Arroyo Ruiz (ORCID: https://orcid.org/0000-0003-1424-4236)
- M Justel-Rodríguez (ORCID: https://orcid.org/0009-0009-1891-5368)
- M. Carla Criado-Muriel (ORCID: https://orcid.org/0000-0002-7082-8845)
- Lydia Alcubilla-García
Institutions
- Universidad de Salamanca (ES)
- Instituto de Investigación Biomédica de Salamanca (ES)
Publication Details
- Journal
- Jornal de Pediatria
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1016/j.jped.2025.101450
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00