The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

Author:

D’Arrigo Stefano1,Gavazzi Francesco1,Alfei Enrico1,Zuffardi Orsetta2,Montomoli Cristina3,Corso Barbara4,Buzzi Erika5,Sciacca Francesca L.6,Bulgheroni Sara1,Riva Daria1,Pantaleoni Chiara1

Affiliation:

1. Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico “C. Besta,” Milan, Italy

2. Medical Genetics Department, University of Pavia, Pavia, Italy

3. Department of Public Health, Neuroscience, Experimental and Forensic Medicine, University of Pavia, Italy

4. Neuroscience Institute, National Research Council, Padua, Italy

5. Institute of Neurological and Psychiatric Sciences of Childhood and Adolescence, University of Milan, A.O. San Paolo, Milan, Italy

6. Medical Genetics Department, IRCCS Fondazione Istituto Neurologico “C. Besta,” Milan, Italy

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.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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