Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases
- Authors
- Byeon, Jung Hye; Shin, Eunsim; Kim, Gun-Ha; Lee, Kyungok; Hong, Young Sook; Lee, Joo Won; Eun, Baik-Lin
- Issue Date
- 1-1월-2014
- Publisher
- YONSEI UNIV COLL MEDICINE
- Keywords
- Comparative genomic hybridization; nervous system disease; child
- Citation
- YONSEI MEDICAL JOURNAL, v.55, no.1, pp.30 - 36
- Indexed
- SCIE
SCOPUS
KCI
- Journal Title
- YONSEI MEDICAL JOURNAL
- Volume
- 55
- Number
- 1
- Start Page
- 30
- End Page
- 36
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/99569
- DOI
- 10.3349/ymj.2014.55.1.30
- ISSN
- 0513-5796
- Abstract
- 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.
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