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

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...

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Bibliographic Details
Published in:Yonsei medical journal 2014, 55(1), , pp.30-36
Main Authors: Byeon, Jung Hye, Shin, Eunsim, Kim, Gun-Ha, Lee, Kyungok, Hong, Young Sook, Lee, Joo Won, Eun, Baik-Lin
Format: Article
Language:English
Subjects:
Adolescent
Adult
Child
Child, Preschool
Comparative Genomic Hybridization - methods
Female
Humans
Infant
Infant, Newborn
Karyotyping
Male
Nervous System Diseases - genetics
Original
Young Adult
의학일반
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Summary: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. 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. 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. 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.
ISSN:0513-5796
1976-2437
DOI:10.3349/ymj.2014.55.1.30