Chromosomal Microarray Analysis in Turkish Patients with Unexplained Developmental Delay and Intellectual Developmental Disorders.
Copy number variations
chromosomal microarray
developmental delay
genetic testing
intellectual developmental disorder
mental retardation
Journal
Noro psikiyatri arsivi
ISSN: 1300-0667
Titre abrégé: Noro Psikiyatr Ars
Pays: Turkey
ID NLM: 9426194
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
18
09
2019
accepted:
16
03
2020
entrez:
21
9
2020
pubmed:
22
9
2020
medline:
22
9
2020
Statut:
epublish
Résumé
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. For 123 patients, chromosome analysis, DNA fragment analysis and microarray were performed. Conventional G-band karyotype analysis from peripheral blood was performed as part of the initial screening tests. FMR1 gene CGG repeat number and methylation analysis were carried out to exclude fragile X syndrome. CMA analysis was performed in 123 unexplained IDD/DD patients with normal karyotypes and fragile X screening, which were evaluated by conventional cytogenetics. Forty-four CNVs were detected in 39 (39/123=31.7%) patients. Twelve CNV variant of unknown significance (VUS) (9.75%) patients and 7 CNV benign (5.69%) patients were reported. In 6 patients, one or more pathogenic CNVs were determined. Therefore, the diagnostic efficiency of CMA was found to be 31.7% (39/123). Today, genetic analysis is still not part of the routine in the evaluation of IDD patients who present to psychiatry clinics. A genetic diagnosis from CMA can eliminate genetic question marks and thus alter the clinical management of patients. Approximately one-third of the positive CMA findings are clinically intervenable. However, the emergence of CNVs as important risk factors for multiple disorders increases the need for individuals with comorbid neurodevelopmental conditions to be the priority where the CMA test is recommended.
Identifiants
pubmed: 32952419
doi: 10.29399/npa.24890
pii: archneuro-57-177
pmc: PMC7481981
doi:
Types de publication
Journal Article
Langues
eng
Pagination
177-191Informations de copyright
Copyright: © 2020 Turkish Neuropsychiatric Society.
Déclaration de conflit d'intérêts
Conflicts of interest: The authors declare that they have no competing interest.
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