[Syndromic autism: II. Genetic syndromes associated with autism].

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