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

Détails

ID Serval
serval:BIB_46E1DA598950
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Périodique
European journal of human genetics
Auteur(s)
Le Gall J., Nizon M., Pichon O., Andrieux J., Audebert-Bellanger S., Baron S., Beneteau C., Bilan F., Boute O., Busa T., Cormier-Daire V., Ferec C., Fradin M., Gilbert-Dussardier B., Jaillard S., Jønch A., Martin-Coignard D., Mercier S., Moutton S., Rooryck C., Schaefer E., Vincent M., Sanlaville D., Le Caignec C., Jacquemont S., David A., Isidor B.
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Statut éditorial
Publié
Date de publication
08/2017
Peer-reviewed
Oui
Volume
25
Numéro
8
Pages
930-934
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
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.

Mots-clé
Chromosomes, Human, X/genetics, DNA Copy Number Variations, Developmental Disabilities/diagnosis, Developmental Disabilities/genetics, Female, Humans, Intellectual Disability/diagnosis, Intellectual Disability/genetics, Male, Phenotype, Sex Chromosome Aberrations, Sex Chromosome Disorders/diagnosis, Sex Chromosome Disorders/genetics, Sex Chromosome Disorders of Sex Development/diagnosis, Sex Chromosome Disorders of Sex Development/genetics, Trisomy/diagnosis, Trisomy/genetics, XYY Karyotype/diagnosis, XYY Karyotype/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
10/09/2017 15:15
Dernière modification de la notice
08/05/2019 17:58
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