Application of array-based comparative genomic hybridization to pediatric neurologic diseases

Jung Hye Byeon, Eunsim Shin, Gun Ha Kim, Kyungok Lee, Young Sook Hong, Joo Won Lee, Baik Lin Eun

    Research output: Contribution to journalArticlepeer-review

    6 Citations (Scopus)


    Purpose: Array comparative genomic hybridization (array-CGH) is a technique used to analyze quantitative increase or decrease of chromosomes by competitive DNA hybridization of patients and controls. This study aimed to evaluate the benefits and yield of array-CGH in comparison with conventional karyotyping in pediatric neurology patients. Materials and Methods: We included 87 patients from the pediatric neurology clinic with at least one of the following features: developmental delay, mental retardation, dysmorphic face, or epilepsy. DNA extracted from patients and controls was hybridized on the Roche NimbleGen 135K oligonucleotide array and compared with G-band karyotyping. The results were analyzed with findings reported in recent publications and internet databases. Results: Chromosome imbalances, including 9 cases detected also by G-band karyotyping, were found in 28 patients (32.2%), and at least 19 of them seemed to be causally related to the abnormal phenotypes. Regarding each clinical symptom, 26.2% of 42 developmental delay patients, 44.4% of 18 mental retardation patients, 42.9% of 28 dysmorphic face patients, and 34.6% of 26 epilepsy patients showed abnormal array results. Conclusion: Although there were relatively small number of tests in patients with pediatric neurologic disease, this study demonstrated that array- CGH is a very useful tool for clinical diagnosis of unknown genome abnormalities performed in pediatric neurology clinics.

    Original languageEnglish
    Pages (from-to)30-36
    Number of pages7
    JournalYonsei medical journal
    Issue number1
    Publication statusPublished - 2014 Jan


    • Child
    • Comparative genomic hybridization
    • Nervous system disease

    ASJC Scopus subject areas

    • Medicine(all)


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