Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

• Published in: Molecular cytogenetics Vol. 8; no. 1; p. 26
• Main Authors: Choucair, Nancy, Ghoch, Joelle Abou, Corbani, Sandra, Cacciagli, Pierre, Mignon-Ravix, Cecile, Salem, Nabiha, Jalkh, Nadine, El Sabbagh, Sandra, Fawaz, Ali, Ibrahim, Tony, Villard, Laurent, Mégarbané, André, Chouery, Eliane
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 09.04.2015; BioMed Central
• Subjects: Biotechnology industry; Chromosomes; DNA microarrays; Genetic aspects; Genetic disorders; Human health and pathology; Life Sciences; Parenting; United States; Intellectual disability; Affymetrix 6.0; Database; Consanguinity; Affymetrix 2.7 M; Lebanese population; Copy number variants; DE-NOVO; MENTAL-RETARDATION; Affymetrix 27 M; CRITICAL REGIONS; CANDIDATE GENES; PHENOTYPE; Affymetrix 60; INTERSTITIAL DELETION; LONG ARM; ARRAY-CGH; CORPUS-CALLOSUM; DELAY

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 homo...