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.
| Original language | English |
|---|---|
| Pages (from-to) | 30-36 |
| Number of pages | 7 |
| Journal | Yonsei Medical Journal |
| Volume | 55 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 2014 Jan 1 |
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Keywords
- Child
- Comparative genomic hybridization
- Nervous system disease
ASJC Scopus subject areas
- Medicine(all)
Cite this
Application of array-based comparative genomic hybridization to pediatric neurologic diseases. / Byeon, Jung Hye; Shin, Eunsim; Kim, Gun Ha; Lee, Kyungok; Hong, Young Sook; Lee, Joo Won; Eun, Baik-Lin.
In: Yonsei Medical Journal, Vol. 55, No. 1, 01.01.2014, p. 30-36.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Application of array-based comparative genomic hybridization to pediatric neurologic diseases
AU - Byeon, Jung Hye
AU - Shin, Eunsim
AU - Kim, Gun Ha
AU - Lee, Kyungok
AU - Hong, Young Sook
AU - Lee, Joo Won
AU - Eun, Baik-Lin
PY - 2014/1/1
Y1 - 2014/1/1
N2 - 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.
AB - 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.
KW - Child
KW - Comparative genomic hybridization
KW - Nervous system disease
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UR - http://www.scopus.com/inward/citedby.url?scp=84890622220&partnerID=8YFLogxK
U2 - 10.3349/ymj.2014.55.1.30
DO - 10.3349/ymj.2014.55.1.30
M3 - Article
VL - 55
SP - 30
EP - 36
JO - Yonsei Medical Journal
JF - Yonsei Medical Journal
SN - 0513-5796
IS - 1
ER -