Numerous colleagues have contributed to the institutional experience of the chromosomal microarray team over a decade at Baylor College of Medicine. I thank Christian Schaaf for critical reading of the manuscript.
SPECIAL SECTION: GENOMICS
The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics
Article first published online: 11 JAN 2013
© 2013 The Author. Child Development © 2013 Society for Research in Child Development, Inc.
Volume 84, Issue 1, pages 121–132, January/February 2013
How to Cite
Beaudet, A. L. (2013), The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics. Child Development, 84: 121–132. doi: 10.1111/cdev.12050
Conflict of interest: The author is Professor and Chair of the Department of Molecular and Human Genetics at Baylor College of Medicine (BCM); the Department offers extensive genetic laboratory testing and derives revenue from this activity.
- Issue published online: 25 JAN 2013
- Article first published online: 11 JAN 2013
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.