Journal
BEHAVIOR GENETICS
Volume 48, Issue 4, Pages 323-336Publisher
SPRINGER
DOI: 10.1007/s10519-018-9902-6
Keywords
Adult patients; Behavioural disorders; Copy number variants; Intellectual disability; Psychiatric disorders
Funding
- Instituto de Salud Carlos III (FIS) [PI080778]
- Fundacio Parc Tauli Institut d'Investigacio i Innovacio Parc Tauli I3PT [CIR2009/33, CIR2010/034]
- Fundacio Barnola-Vallribera
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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.
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