Open AccessRoutine Chromosomal Microarray Analysis Is Necessary in Turkish Patients with Unexplained Developmental Delay/Intellectual Disability Disorder
Author(s) -
Hakan Gürkan,
Emine İkbal Atlı,
Engin Atlı,
Leyla Bozatlı,
Mengühan Araz Altay,
Sinem Yalçıntepe,
Yasemin Özen,
Damla Eker,
Çisem Akurut,
Selma Demır,
İşık Görker
Publication year - 2020
Publication title -
nöropsikiyatri arşivi
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.417
H-Index - 14
ISSN - 1309-4866
DOI - 10.29399/npa.24890
Subject(s) - copy number variation , microarray , karyotype , genetics , genetic testing , microarray analysis techniques , intellectual disability , fragile x syndrome , genetic analysis , sanger sequencing , cytogenetics , medicine , biology , chromosome , bioinformatics , gene , dna sequencing , genome , gene expression
Aneuploids, copy number variations (CNVs), and single nucleotide variants in specific genes are the main genetic causes of developmental delay (DD) and intellectual disability disorder (IDD). These genetic changes can be detected using chromosome analysis, chromosomal microarray (CMA), and next-generation DNA sequencing techniques. Therefore; In this study, we aimed to investigate the importance of CMA in determining the genomic etiology of unexplained DD and IDD in 123 patients.