Yu.B. Yurov (1,2,3), S.G. Vorsanova (1,2,3), I.Yu. Iourov (1,2,4)
1 -Research Center of Mental Health, RAMS, Russian Federation, 117152, Moscow, Zagorodnoe sh., 2,
2 -Institute of Paediatrics and Paediatric Surgery, Ministry of Health, Russian Federation, 127412, Moscow, Taldomskaya str., 2,
3 -Moscow City University of Psychology and Education, Russian Federation, 127051, Moscow, Sretenka str., 29,
4 -Russian Medical Academy of Postgraduate Education of the Ministry of Health, Russian Federation, 123995, Moscow, Barrikadnaya str., 2/1

Genomic and molecular genetic studies of autism can identify new biological markers to determine the etiology and the molecular and cellular mechanisms of the pathogenesis of this disease. In addition to the fundamental importance of this research the laboratory diagnosis of autism is significant for identification of the risk factors for the disease as well as for genetic counseling of families with autistic children. Recent advances in molecular genetic studies of autism are based on the application of post-genomic and molecular cytogenetic techniques, including methods for genome-wide scan (molecular karyotyping using DNA microarrays) and the analysis of genetic changes in the cells of the brain by virtue of fluorescent detection for in situ hybridization. This short review summarizes the recent data on translational research in autism directed to the diagnosis and treatment of this disease in the light of recent advances in the field of personalized (genomic) medicine.
autism, mental retardation, molecular karyotyping, the variation of the genome, genomic abnormalities, chromosomal microaberrations