Yonsei Med J.  2014 Jan;55(1):30-36. 10.3349/ymj.2014.55.1.30.

Application of Array-Based Comparative Genomic Hybridization to Pediatric Neurologic Diseases

• Byeon JH
• Shin E
• Kim GH
• Lee K
• Hong YS
• Lee JW
• Eun BL

• KMID: 1779883
• DOI: http://doi.org/10.3349/ymj.2014.55.1.30

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.

Keyword

Comparative genomic hybridization; nervous system disease; child

MeSH Terms

Adolescent
Adult
Child
Child, Preschool
Comparative Genomic Hybridization/*methods
Female
Humans
Infant
Infant, Newborn
Karyotyping
Male
Nervous System Diseases/*genetics
Young Adult

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