18q- chromosomal abnormality in a phenotypically normal 2 1/2-year-old male with autism

Dev Med Child Neurol. 1992 Nov;34(11):1005-9. doi: 10.1111/j.1469-8749.1992.tb11406.x.


The authors report the case of a 2 1/2-year-old male with autism, with an 18q- chromosomal abnormality in the absence of phenotypical features of the 18q- syndrome. It is suggested that clinicians evaluating children with autistic disorders consider obtaining chromosome analysis, even in the absence of phenotypical abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Autistic Disorder / psychology
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 18*
  • Humans
  • Karyotyping
  • Male
  • Neuropsychological Tests
  • Phenotype*