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

Jung Hye Byeon, Eunsim Shin, Gun Ha Kim, Kyungok Lee, Young Sook Hong, Joo Won Lee, Baik-Lin Eun

Research output: Contribution to journalArticle

6 Citations (Scopus)

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 languageEnglish
Pages (from-to)30-36
Number of pages7
JournalYonsei Medical Journal
Volume55
Issue number1
DOIs
Publication statusPublished - 2014 Jan 1

Fingerprint

Comparative Genomic Hybridization
Nervous System Diseases
Pediatrics
Karyotyping
Neurology
Intellectual Disability
Epilepsy
Chromosomes
DNA
Mentally Ill Persons
Oligonucleotide Array Sequence Analysis
Internet
Genome
Databases
Phenotype

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 journalArticle

Byeon, Jung Hye ; Shin, Eunsim ; Kim, Gun Ha ; Lee, Kyungok ; Hong, Young Sook ; Lee, Joo Won ; Eun, Baik-Lin. / Application of array-based comparative genomic hybridization to pediatric neurologic diseases. In: Yonsei Medical Journal. 2014 ; Vol. 55, No. 1. pp. 30-36.
@article{35e509ea26ee4771a90b85a391ba09ce,
title = "Application of array-based comparative genomic hybridization to pediatric neurologic diseases",
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.",
keywords = "Child, Comparative genomic hybridization, Nervous system disease",
author = "Byeon, {Jung Hye} and Eunsim Shin and Kim, {Gun Ha} and Kyungok Lee and Hong, {Young Sook} and Lee, {Joo Won} and Baik-Lin Eun",
year = "2014",
month = "1",
day = "1",
doi = "10.3349/ymj.2014.55.1.30",
language = "English",
volume = "55",
pages = "30--36",
journal = "Yonsei Medical Journal",
issn = "0513-5796",
publisher = "Yonsei University College of Medicine",
number = "1",

}

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

UR - http://www.scopus.com/inward/record.url?scp=84890622220&partnerID=8YFLogxK

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 -