1. Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
- Author
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Albert David, Sylvie Jaillard, Brigitte Gilbert-Dussardier, Mélanie Fradin, Olivier Pichon, Sébastien Moutton, Tiffany Busa, Elise Schaefer, Sandra Mercier, Frédéric Bilan, Odile Boute, Sabine Baron, Sébastien Jacquemont, Caroline Rooryck, Mathilde Nizon, Bertrand Isidor, Dominique Martin-Coignard, Joris Andrieux, Valérie Cormier-Daire, Séverine Audebert-Bellanger, Jessica Le Gall, Cédric Le Caignec, Damien Sanlaville, Claire Beneteau, Claude Férec, Marie Vincent, and Aia E. Jønch
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Pediatrics ,DNA Copy Number Variations ,Developmental Disabilities ,Sex Chromosome Disorders of Sex Development ,Sex Chromosome Disorders ,Trisomy ,Triple X syndrome ,Biology ,Article ,03 medical and health sciences ,Neurodevelopmental disorder ,Intellectual Disability ,Intellectual disability ,XYY Karyotype ,Genetics ,medicine ,Humans ,Copy-number variation ,Genetics (clinical) ,Sex Chromosome Aberrations ,Chromosomes, Human, X ,Cytogenetics ,medicine.disease ,Human genetics ,030104 developmental biology ,Phenotype ,Medical genetics ,XYY syndrome ,Female - 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 additional independent genetic factor for intellectual disability and developmental delay for patients with SCA and neurodevelopmental disorder.
- Published
- 2016