학술논문
Diagnostic Utility of Array Comparative Genomic Hybridization in Children with Neurological Diseases.
Document Type
Article
Author
Source
Subject
*COMPARATIVE genomic hybridization
*JUVENILE diseases
*NEUROLOGICAL disorders
*BODY dysmorphic disorder
*CHILD patients
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Language
ISSN
1551-3815
Abstract
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. Medical files of pediatric patients with neurocognitive disturbances who underwent aCGH analysis were reviewed retrospectively. 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). 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. [ABSTRACT FROM AUTHOR]