Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases
Laura Mary, Alinoë Lavillaureix, Adélie Perrot, Philippe Loget, Erika Launay, Anne-Sophie Leborgne, Florence Démurger, Mélanie Fradin, G. Le Bouar, Chloé Quēlin, Christèle Dubourg, Laurent Pasquier, Sylvie Odent, Marc‐Antoine Belaud‐Rotureau, Sylvie Jaillard
Topics & Concepts
PenetranceGene duplicationCopy-number variationSegmental duplicationGeneticsPhenotypeGenetic counselingExpressivityBiologyGenotype-phenotype distinctionPrenatal diagnosisGenePregnancyGenomeFetusGene familyCongenital heart defects researchCongenital Heart Disease StudiesGenomic variations and chromosomal abnormalities