2026-04-14T04:53:55Zhttps://recercat.cat/oai/request

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

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders Viñas-Jornet, Marina Esteba-Castillo, Susanna Baena Díez, Neus Ribas-Vidal, Núria Ruiz, Anna Torrents-Rodas, David Gabau, Elisabeth Vilella, Elisabet Martorell, Lourdes Armengol, Lluís Novell, Ramon Guitart, Maria Adult patients Behavioural disorders Copy number variants Intellectual disability Psychiatric disorders 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. 2018 Estudi clínic https://ddd.uab.cat/record/227924 urn:10.1007/s10519-018-9902-6 urn:oai:ddd.uab.cat:227924 urn:pmid:29882083 urn:pmcid:PMC6028865 urn:pmc-uid:6028865 urn:articleid:15733297v48p323 urn:oai:egreta.uab.cat:publications/96d95515-5aae-401c-a33d-f8d6c3f32121 urn:scopus_id:85048087544 urn:oai:pubmedcentral.nih.gov:6028865 http://hdl.handle.net/2072/455269 eng Instituto de Salud Carlos III PI080778 Behavior Genetics ; Vol. 48 (june 2018), p. 323-336 open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/ application/pdf