INTRODUCTION AND DEVELOPMENT: In this study we report on the different genetic 
syndromes in which autism has been described as one of the possible 
manifestations.
CONCLUSIONS: Certain genetic syndromes are providing us with extremely valuable 
information about the role played by genetics in autism. This is the case of the 
following syndromes: Angelman syndrome, Prader-Willi syndrome, 15q11-q13 
duplication, fragile X syndrome, fragile X premutation, deletion of chromosome 
2q, XYY syndrome, Smith-Lemli-Opitz syndrome, Apert syndrome, mutations in the 
ARX gene, De Lange syndrome, Smith-Magenis syndrome, Williams syndrome, Rett 
syndrome, Noonan syndrome, Down syndrome, velo-cardio-facial syndrome, myotonic 
dystrophy, Steinert disease, tuberous sclerosis, Duchenne's disease, Timothy 
syndrome, 10p terminal deletion, Cowden syndrome, 45,X/46,XY mosaicism, Myhre 
syndrome, Sotos syndrome, Cohen syndrome, Goldenhar syndrome, Joubert syndrome, 
Lujan-Fryns syndrome, Moebius syndrome, hypomelanosis of Ito, neurofibromatosis 
type 1, CHARGE syndrome and HEADD syndrome.