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.
Disclosure statement
No potential conflict of interest was reported by the authors.