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

Ceylan, Ahmet; Citli, Senol; Erdem, Haktan; Sahin, Ibrahim; Arslan, ELİF; Erdogan, MURAT

doi:10.1186/s13039-018-0402-4

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, cilt.11, 2018 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 11
Basım Tarihi: 2018
Doi Numarası: 10.1186/s13039-018-0402-4
Dergi Adı: MOLECULAR CYTOGENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Karadeniz Teknik Üniversitesi Adresli: Hayır

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.