The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics

Authors


  • 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.
  • 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.

Correspondence concerning this article should be addressed to Arthur L. Beaudet, Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, BCM225, Houston, TX 77030. Electronic mail may be sent to abeaudet@bcm.edu.

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.

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