Behavioral phenotypes: conceptual and methodological issues

Am J Med Genet. 1998 May 8;81(3):235-40.


Specific behavioral patterns associated with chromosomal and genetic disorders are being recognized more frequently. The hope is that the demonstration of a behavioral phenotype with a particular syndrome may lead to the isolation of the behavior's genetic determinants. Three issues are considered here: the problem of defining a behavioral phenotype, the difficulty of demonstrating the existence of a behavioral phenotype, and the likelihood of characterizing etiologically important genes. Although there are many impediments to success, the value of recognizing behavioral phenotypes within a diagnostic syndrome is emphasized, and examples are given of how this may lead to isolating behavioral genes.

MeSH terms

  • Aggression
  • Animals
  • Autistic Disorder / genetics
  • Behavior, Animal
  • Child
  • Fragile X Syndrome / genetics
  • Genetic Diseases, Inborn / genetics*
  • Genetics, Behavioral*
  • Humans
  • Male
  • Phenotype
  • Sample Size
  • Williams Syndrome / genetics