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

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

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

• 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
• Open Archive Collection: AVESIS Open Access Collection
• Ankara Yıldırım Beyazıt University Affiliated: Yes

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.