Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases.
- Author:
Jung Hye BYEON
1
;
Eunsim SHIN
;
Gun Ha KIM
;
Kyungok LEE
;
Young Sook HONG
;
Joo Won LEE
;
Baik Lin EUN
Author Information
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords: Comparative genomic hybridization; nervous system disease; child
- MeSH: Adolescent; Adult; Child; Child, Preschool; Comparative Genomic Hybridization/*methods; Female; Humans; Infant; Infant, Newborn; Karyotyping; Male; Nervous System Diseases/*genetics; Young Adult
- From:Yonsei Medical Journal 2014;55(1):30-36
- CountryRepublic of Korea
- Language:English
- 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.
