Chromosomal microarray analysis (CMA) is a technology used for the detection of clinically-significant microdeletions or duplications, with a high sensitivity for submicroscopic aberrations. It is able to detect changes as small as 5 10Kb in size - a resolution up to 1000 times higher than that of conventional karyotyping. CMA is used for uncovering copy number variants (CNVs) thought to play an important role in the pathogenesis of a variety of disorders, primarily neurodevelopmental disorders and congenital anomalies. CMA may be applied in the prenatal or postnatal setting, with unique benefits and limitations in each setting. The growing use of CMA makes it essential for practicing physicians to understand the principles of this technology and be aware of its powers and limitations.
|Number of pages
|Pediatric Endocrinology Reviews
|Published - Sep 2015
- Chromosomal microarray
- Comparative genomic hybridization
- Copy number variant (CNV)
- Snp array