Article
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
European journal of human genetics : EJHG - 1 Aug 2017
Le Gall Jessica, Nizon Mathilde, Pichon Olivier, Andrieux Joris, Audebert-Bellanger Séverine, Baron Sabine, Beneteau Claire, Bilan Frédéric, Boute Odile, Busa Tiffany, Cormier-Daire Valérie, Ferec Claude, Fradin Mélanie, Gilbert-Dussardier Brigitte, Jaillard Sylvie, Jønch Aia, Martin-Coignard Dominique, Mercier Sandra, Moutton Sébastien, Rooryck Caroline, Schaefer Elise, Vincent Marie, Sanlaville Damien, Le Caignec Cédric, Jacquemont Sébastien, David Albert, Isidor Bertrand
Abstract excerpt
Sex chromosome aneuploidies (SCA) is a group of conditions in which individuals have an abnormal number of sex chromosomes. SCA, such as Klinefelter's syndrome, XYY syndrome, and Triple X syndrome are associated with a large range of neurological outcome. Another genetic event such as another cytogenetic abnormality may explain a part of this variable expressivity. In this study, we have recruited fourteen...
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