Format

Send to

Choose Destination
See comment in PubMed Commons below
Child Dev. 2013 Jan-Feb;84(1):121-32. doi: 10.1111/cdev.12050. Epub 2013 Jan 11.

The utility of chromosomal microarray analysis in developmental and behavioral pediatrics.

Author information

1
Baylor College of Medicine. 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.

PMID:
23311723
PMCID:
PMC3725967
DOI:
10.1111/cdev.12050
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Wiley Icon for PubMed Central
    Loading ...
    Support Center