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
Service de Génétique Médicale, CHU Nantes, Nantes, France.
Service de Cytogénétique, CHU Nantes, Nantes, France.
Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.
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.
性染色体非整倍体（SCA）是一组个体性染色体数量异常的病症。SCA，如克兰费尔特综合征、XYY综合征和XXX综合征，与一系列广泛的神经学结果相关。另一种遗传事件，如另一种细胞遗传学异常，可能解释了这种可变表达性的一部分。在本研究中，我们招募了14名患有智力残疾或发育迟缓且携带与拷贝数变异（CNV）相关的SCA的患者。在我们的队列中（4名47,XXY患者、4名47,XXX患者和6名47,XYY患者），7名患者携带致病性CNV，2名携带可能致病性CNV，5名携带意义未明的变异。我们的分析表明，CNV可能被视为SCA和神经发育障碍患者智力残疾和发育迟缓的一个额外独立遗传因素。
