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

Abstract

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.

• Authors: J Artigas-Pallarés, E Gabau-Vila, M Guitart-Feliubadaló
• Journal: Revista de neurologia (Rev Neurol) Vol. 40 Suppl 1 Pg. S151-62 (Jan 15 2005) ISSN: 1576-6578 [Electronic] Spain
• Vernacular Title: El autismo sindrómico: II. Síndromes de base genética asociados a autismo.
• PMID: 15736079 (Publication Type: English Abstract, Journal Article)

Topics

• Autistic Disorder (genetics)