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  • 1.
    Anders Eriksson, Mats
    et al.
    Karolinska Institute, Sweden; Karolinska University Hospital, Sweden; Gothenburg University, Sweden.
    Lieden, Agne
    Karolinska Institute, Sweden; Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
    Westerlund, Joakim
    Stockholm University, Sweden.
    Bremer, Anna
    Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Diagnostikcentrum, Klinisk patologi och klinisk genetik. Division of Clinical Genetics, University Hospital, Link.
    Wincent, Josephine
    Karolinska Institute, Sweden; Karolinska Institute, Sweden.
    Sahlin, Ellika
    Karolinska Institute, Sweden; Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
    Gillberg, Christopher
    Gothenburg University, Sweden.
    Fernell, Elisabeth
    Gothenburg University, Sweden.
    Anderlid, Britt-Marie
    Karolinska Institute, Sweden; Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
    Rare copy number variants are common in young children with autism spectrum disorder2015Inngår i: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 104, nr 6, s. 610-618Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    AimSeveral studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population-based cohort of well-characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. MethodsWe performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54months of age. ResultsPathogenic aberrations were detected in 8.6% of the children and variants of uncertain significance were present in another 8.6%. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in the subgroup with intellectual disability. ConclusionOur results support the use of chromosomal microarray methods for the first tier genetic analysis of autism spectrum disorder. However, it is likely in the near future that chromosomal microarray methods will probably be replaced by whole-exome and whole-genome sequencing technologies in clinical genetic testing.

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