dc.contributor.author |
Viñas-Jornet, Marina |
dc.contributor.author |
Esteba-Castillo, Susanna |
dc.contributor.author |
Baena Díez, Neus |
dc.contributor.author |
Ribas-Vidal, Núria |
dc.contributor.author |
Ruiz, Anna |
dc.contributor.author |
Torrents-Rodas, David |
dc.contributor.author |
Gabau, Elisabeth |
dc.contributor.author |
Vilella, Elisabet |
dc.contributor.author |
Martorell, Lourdes |
dc.contributor.author |
Armengol, Lluís |
dc.contributor.author |
Novell, Ramon |
dc.contributor.author |
Guitart, Míriam |
dc.date |
2018 |
dc.date.accessioned |
2022-10-28T12:38:08Z |
dc.date.available |
2022-10-28T12:38:08Z |
dc.date.issued |
2022-10-28 |
dc.identifier |
https://ddd.uab.cat/record/227924 |
dc.identifier |
urn:10.1007/s10519-018-9902-6 |
dc.identifier |
urn:oai:ddd.uab.cat:227924 |
dc.identifier |
urn:pmid:29882083 |
dc.identifier |
urn:pmcid:PMC6028865 |
dc.identifier |
urn:pmc-uid:6028865 |
dc.identifier |
urn:articleid:15733297v48p323 |
dc.identifier |
urn:oai:egreta.uab.cat:publications/96d95515-5aae-401c-a33d-f8d6c3f32121 |
dc.identifier |
urn:scopus_id:85048087544 |
dc.identifier |
urn:oai:pubmedcentral.nih.gov:6028865 |
dc.identifier.uri |
http://hdl.handle.net/2072/523524 |
dc.format |
application/pdf |
dc.language |
eng |
dc.publisher |
|
dc.relation |
Instituto de Salud Carlos III PI080778 |
dc.relation |
Behavior Genetics ; Vol. 48 (june 2018), p. 323-336 |
dc.rights |
open access |
dc.rights |
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. |
dc.rights |
https://creativecommons.org/licenses/by/4.0/ |
dc.subject |
Adult patients |
dc.subject |
Behavioural disorders |
dc.subject |
Copy number variants |
dc.subject |
Intellectual disability |
dc.subject |
Psychiatric disorders |
dc.title |
High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders |
dc.type |
Estudi clínic |
dc.description.abstract |
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". |
dc.description.abstract |
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. |