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Gepubliceerd in: Journal of Autism and Developmental Disorders 5/2006

01-07-2006 | Original Paper

A Case of Partial Trisomy of Chromosome 8p Associated with Autism

Auteurs: Katerina Papanikolaou, Elena Paliokosta, Jolanda Gyftodimou, Gerassimos Kolaitis, Sofia Vgenopoulou, Catherine Sarri, John Tsiantis

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 5/2006

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Abstract

We report on a case of a 6-year-old female with partial trisomy 8p(21–23) associated with autism, mild dysmorphic features, and moderate learning disability. Although mental retardation is a common finding in patients with mosaic trisomy 8 or partial trisomy of various regions of chromosome 8, only two cases associated with autism have been reported so far. Also, in our case clinical manifestations were mild compared to other patients with duplication of the same region of chromosome 8. Although there has been no strong evidence for linkage on chromosome 8 in any of the genome-wide linkage studies so far, the possibility that this segment includes genes involved in the etiology of autism should be further explored.
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Metagegevens
Titel
A Case of Partial Trisomy of Chromosome 8p Associated with Autism
Auteurs
Katerina Papanikolaou
Elena Paliokosta
Jolanda Gyftodimou
Gerassimos Kolaitis
Sofia Vgenopoulou
Catherine Sarri
John Tsiantis
Publicatiedatum
01-07-2006
Uitgeverij
Springer US
Gepubliceerd in
Journal of Autism and Developmental Disorders / Uitgave 5/2006
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI
https://doi.org/10.1007/s10803-006-0104-3