Related Experiment Video
Updated: Aug 9, 2026

Paradigms for Behavioral Assessment in Drosophila Model of Autism Spectrum Disorder
Published on: September 6, 2024
A case of partial trisomy of chromosome 8p associated with autism
Katerina Papanikolaou1, Elena Paliokosta, Jolanda Gyftodimou
1Department of Child Psychiatry, University of Athens, Agia Sophia Children's Hospital, 115 27, Athens, Greece. apechlib@med.uoa.gr
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.
More Related Videos
08:44Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
Published on: October 17, 2025
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
Related Concept Videos
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Meiosis I
Karyotyping
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy
Pedigree Analysis