2026-04-17T02:42:19Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4552692024-10-31T05:15:19Zcom_2072_98col_2072_378192

00925njm 22002777a 4500 dc Viñas-Jornet, Marina author Esteba-Castillo, Susanna author Baena Díez, Neus author Ribas-Vidal, Núria author Ruiz, Anna author Torrents-Rodas, David author Gabau, Elisabeth author Vilella, Elisabet author Martorell, Lourdes author Armengol, Lluís author Novell, Ramon author Guitart, Maria author 2018 Altres ajuts: Financial support was received from "Fundació Parc Taulí Institut d'Investigació i Innovació Parc Taulí I3PT" (Grant Nos. CIR2009/33, CIR2010/034) and "Fundació Barnola-Vallribera 2011". 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 description of an additional 11% of the patients harbouring possible pathogenic CNVs-including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1-providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services. http://hdl.handle.net/2072/455269 Adult patients Behavioural disorders Copy number variants Intellectual disability Psychiatric disorders High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders