The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics
- 11 January 2013
- journal article
- special section
- Published by Wiley in Child Development
- Vol. 84 (1), 121-132
- https://doi.org/10.1111/cdev.12050
Abstract
Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism (SNP) arrays, both of which are useful for detection of genomic copy number variants (CNV) such as microdeletions and microduplications. The frequency of disease‐causing CNVs is highest (20%–25%) in children with moderate to severe intellectual disability accompanied by malformations or dysmorphic features. Disease‐causing CNVs are found in 5%–10% of cases of autism, being more frequent in severe phenotypes. CMA has replaced Giemsa‐banded karyotype as the first‐tier test for genetic evaluation of children with developmental and behavioral disabilities.Keywords
This publication has 78 references indexed in Scilit:
- CNVs: Harbingers of a Rare Variant Revolution in Psychiatric GeneticsCell, 2012
- Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysisThe Lancet, 2010
- The Genetics of Child Psychiatric Disorders: Focus on Autism and Tourette SyndromeNeuron, 2010
- Detection of clinically relevant exonic copy-number changes by array CGHHuman Mutation, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Human Mutation, 2010
- Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disordersTrends in Genetics, 2009
- Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genesMolecular Psychiatry, 2009
- Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndromeAnnals of Neurology, 2009
- Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 casesPrenatal Diagnosis, 2008