Ontology highlight
ABSTRACT:
SUBMITTER: Vinas-Jornet M
PROVIDER: S-EPMC6028865 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Viñas-Jornet Marina M Esteba-Castillo Susanna S Baena Neus N Ribas-Vidal Núria N Ruiz Anna A Torrents-Rodas David D Gabau Elisabeth E Vilella Elisabet E Martorell Lourdes L Armengol Lluís L Novell Ramon R Guitart Míriam M
Behavior genetics 20180607 4
A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical descrip ...[more]