The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
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.
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy darrigo@istituto-besta.it.
Stefano
S
D'Arrigo
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
Francesco
F
Gavazzi
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
Enrico
E
Alfei
Medical Genetics Department, University of Pavia, Pavia, Italy.
Orsetta
O
Zuffardi
Department of Public Health, Neuroscience, Experimental and Forensic Medicine, University of Pavia, Italy.
Cristina
C
Montomoli
Neuroscience Institute, National Research Council, Padua, Italy.
Barbara
B
Corso
Institute of Neurological and Psychiatric Sciences of Childhood and Adolescence, University of Milan, A.O. San Paolo, Milan, Italy.
Erika
E
Buzzi
Medical Genetics Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
Francesca L
FL
Sciacca
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
Sara
S
Bulgheroni
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
Daria
D
Riva
Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
Chiara
C
Pantaleoni
D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization / Q000379:methods*; D056915:DNA Copy Number Variations / Q000235:genetics*; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics*; D016015:Logistic Models; D008297:Male; D046228:Microarray Analysis; D012189:Retrospective Studies; D012720:Severity of Illness Index
array-CGH; developmental delay; intellectual disability