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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.


Journal article


Am J Med Genet

Publication Date





235 - 240


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