A case of partial trisomy of chromosome 8p associated with autism.

  title={A case of partial trisomy of chromosome 8p associated with autism.},
  author={K. Papanikolaou and Elena Paliokosta and Jolanda Gyftodimou and Gerassimos Kolaitis and Sofia Vgenopoulou and Catherine Sarri and John Tsiantis},
  journal={Journal of autism and developmental disorders},
  volume={36 5},
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… CONTINUE READING


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