Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

ABSTRACT: 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 addition

SUBMITTER: Le Gall J 

PROVIDER: S-EPMC5567159 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature