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The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
- Source :
-
Journal of child neurology [J Child Neurol] 2016 May; Vol. 31 (6), pp. 691-9. Date of Electronic Publication: 2015 Oct 28. - Publication Year :
- 2016
-
Abstract
- Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. Our study showed that causative copy number variants are frequently found even in cases of mild intellectual disability (30.77%). We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization.<br /> (© The Author(s) 2015.)
- Subjects :
- Brain diagnostic imaging
Child
Child, Preschool
Chromosome Aberrations
Developmental Disabilities diagnostic imaging
Electroencephalography
Female
Humans
Infant
Infant, Newborn
Intellectual Disability diagnostic imaging
Logistic Models
Male
Microarray Analysis
Retrospective Studies
Severity of Illness Index
Comparative Genomic Hybridization methods
DNA Copy Number Variations genetics
Developmental Disabilities genetics
Intellectual Disability genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1708-8283
- Volume :
- 31
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Journal of child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 26511719
- Full Text :
- https://doi.org/10.1177/0883073815613562