The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.
Dev Period Med
; 18(3): 307-17, 2014.
Article
em En
| MEDLINE
| ID: mdl-25182394
ABSTRACT
INTRODUCTION:
Intellectual disability (ID)/Developmental delay (DD), which occurs in 1-3% of the population, accounts for a large number of cases regularly seen in genetics clinics. Currently, Array Comparative Genomic Hybridization (array CGH) is recommended by the International Standards for Cytogenomic Arrays (ISCA) Consortium as a first line test in the diagnostics of ID/DD, replacing G-banded chromosome analysis. THEAIM:
Application of array CGH in clinical diagnostics of developmental delay/ intellectual disability in children. MATERIAL ANDMETHODS:
We present the results of 8x60K oligonucleotide array application that was successfully implemented in a cohort of 112 patients with the clinical diagnosis of intellectual disability and accompanying dysmorphic features and/or congenital malformations.RESULTS:
We have identified 37 copy number variants (CNVs) with the size ranging from 40 kb to numerical chromosomal aberrations, including unbalanced translocations and chromosome Y disomy, receiving an overall diagnostic yield of 33%. Known pathogenic changes were identified in 21.4% of the cases. Among patients with pathogenic CNVs identified by array CGH, 41.7% had a previously normal karyotype analysis.CONCLUSIONS:
Our studies provide more insights into the benefits derived by using chromosomal microarray analysis and demonstrate the usefulness of array CGH as a first-tier clinical setting test in patients with intellectual disability.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Deficiências do Desenvolvimento
/
Hibridização Genômica Comparativa
/
Deficiência Intelectual
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Guideline
/
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Dev Period Med
Assunto da revista:
PEDIATRIA
Ano de publicação:
2014
Tipo de documento:
Article