Chromosomal Microarray: Application for Congenital Heart Diseases
نویسنده
چکیده
https://e-kcj.org Chromosomal microarray (CMA) is a technology used to determine if there are microduplication or microdeletion pieces of genetic information. The prefix ‘Micro-’ indicates that less than 5 Mb sized genomic regions which has not been identified by conventional karyotyping using the G-band technique. These small gains and losses are called copy number variants (CNVs). A CNV is detected by CMA can not only be pathogenic resulting in physical and/or intellectual consequence, but also be of no medical consequence.1)2)
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