Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients
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- 作者：Nancy Choucair ; Joelle Abou Ghoch ; Sandra Corbani…
- 关键词：Affymetrix 2.7 M ; Affymetrix 6.0 ; Consanguinity ; Copy number variants ; Database ; Intellectual disability ; Lebanese population
- 刊名：Molecular Cytogenetics
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：8
- 期：1
- 全文大小：414 KB
- 刊物主题：Cytogenetics; Molecular Medicine;
- 出版者：BioMed Central
- ISSN：1755-8166
文摘
Background Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and congenital anomalies. Its use has revealed the capacity to detect copy number variants (CNVs), as well as regions of homozygosity, that, based on their distribution on chromosomes, indicate uniparental disomy or parental consanguinity that is suggestive of an increased probability of recessive disease.