Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders


Ceylan A. C. , Citli S., Erdem H. B. , Sahin I., Arslan E. A. , Erdogan M.

MOLECULAR CYTOGENETICS, cilt.11, 2018 (SCI İndekslerine Giren Dergi)

Özet

Background: Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also contributes to the identification of genes that are responsible for the phenotypes in the new copy number variations.