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., Erdogan M.

MOLECULAR CYTOGENETICS, vol.11, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11
  • Publication Date: 2018
  • Doi Number: 10.1186/s13039-018-0402-4
  • Journal Name: MOLECULAR CYTOGENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Karadeniz Technical University Affiliated: No

Abstract

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.