Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases
DC Field | Value | Language |
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dc.contributor.author | Byeon, Jung Hye | - |
dc.contributor.author | Shin, Eunsim | - |
dc.contributor.author | Kim, Gun-Ha | - |
dc.contributor.author | Lee, Kyungok | - |
dc.contributor.author | Hong, Young Sook | - |
dc.contributor.author | Lee, Joo Won | - |
dc.contributor.author | Eun, Baik-Lin | - |
dc.date.accessioned | 2021-09-05T12:27:12Z | - |
dc.date.available | 2021-09-05T12:27:12Z | - |
dc.date.created | 2021-06-15 | - |
dc.date.issued | 2014-01-01 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://scholar.korea.ac.kr/handle/2021.sw.korea/99569 | - |
dc.description.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. | - |
dc.language | English | - |
dc.language.iso | en | - |
dc.publisher | YONSEI UNIV COLL MEDICINE | - |
dc.subject | COPY-NUMBER VARIATIONS | - |
dc.subject | MORPHOLOGY STANDARD TERMINOLOGY | - |
dc.subject | IDIOPATHIC MENTAL-RETARDATION | - |
dc.subject | DELETION SYNDROME | - |
dc.subject | INTELLECTUAL DISABILITY | - |
dc.subject | OLIGONUCLEOTIDE ARRAYS | - |
dc.subject | DEVELOPMENTAL DELAY | - |
dc.subject | REARRANGEMENTS | - |
dc.subject | DELINEATION | - |
dc.subject | EPILEPSY | - |
dc.title | Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Byeon, Jung Hye | - |
dc.contributor.affiliatedAuthor | Kim, Gun-Ha | - |
dc.contributor.affiliatedAuthor | Hong, Young Sook | - |
dc.contributor.affiliatedAuthor | Lee, Joo Won | - |
dc.contributor.affiliatedAuthor | Eun, Baik-Lin | - |
dc.identifier.doi | 10.3349/ymj.2014.55.1.30 | - |
dc.identifier.scopusid | 2-s2.0-84890622220 | - |
dc.identifier.wosid | 000330142300005 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, v.55, no.1, pp.30 - 36 | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.citation.title | YONSEI MEDICAL JOURNAL | - |
dc.citation.volume | 55 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 30 | - |
dc.citation.endPage | 36 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.identifier.kciid | ART001834705 | - |
dc.description.journalClass | 1 | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
dc.relation.journalResearchArea | General & Internal Medicine | - |
dc.relation.journalWebOfScienceCategory | Medicine, General & Internal | - |
dc.subject.keywordPlus | COPY-NUMBER VARIATIONS | - |
dc.subject.keywordPlus | MORPHOLOGY STANDARD TERMINOLOGY | - |
dc.subject.keywordPlus | IDIOPATHIC MENTAL-RETARDATION | - |
dc.subject.keywordPlus | DELETION SYNDROME | - |
dc.subject.keywordPlus | INTELLECTUAL DISABILITY | - |
dc.subject.keywordPlus | OLIGONUCLEOTIDE ARRAYS | - |
dc.subject.keywordPlus | DEVELOPMENTAL DELAY | - |
dc.subject.keywordPlus | REARRANGEMENTS | - |
dc.subject.keywordPlus | DELINEATION | - |
dc.subject.keywordPlus | EPILEPSY | - |
dc.subject.keywordAuthor | Comparative genomic hybridization | - |
dc.subject.keywordAuthor | nervous system disease | - |
dc.subject.keywordAuthor | child | - |
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