European journal of human genetics : EJHG · 2017
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
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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
Аннотация
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 patients with intellectual disability or developmental delay carrying SCA associated with a copy-number variant (CNV). In our cohort (four patients 47,XXY, four patients 47,XXX, and six patients 47,XYY), seven patients were carrying a pathogenic CNV, two a likely pathogenic CNV and five a variant of uncertain significance. Our analysis suggests that CNV might be considered as an additional independent genetic factor for intellectual disability and developmental delay for patients with SCA and neurodevelopmental disorder.