• Jung Hye Byeon, Eunsim Shin, Gun-Ha Kim, Kyungok Lee, Young Sook Hong, Joo Won Lee, and Baik-Lin Eun.
• Department of Pediatrics, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul 152-703, Korea. bleun@korea.ac.kr.
• Yonsei Med. J. 2014 Jan 1; 55 (1): 30-6.

PurposeArray 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 MethodsWe 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.ResultsChromosome 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.ConclusionAlthough 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.

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