Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome

Am J Med Genet. 1994 Sep 15;54(3):268-70. doi: 10.1002/ajmg.1320540316.


A partial trisomy 16p was identified in a 14-year-old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette's syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especially for autistic disorder.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Autistic Disorder / genetics*
  • Chromosomes, Human, Pair 16*
  • Humans
  • Male
  • Tourette Syndrome / genetics*
  • Trisomy / genetics*