MOLECULAR KARYOTYPING IN CHILDREN WITH MENTAL RETARDATION AND AUTISM
In the present paper we report a study of peripheral blood lymphocytes samples in 115 children with mental retardation, congenital malformations and autism by cytogenetic methods of G- and C-banding. Unbalanced genomic variations were investigated by molecular karyotyping. Patients presented with the loss of genetic material were also examined using fluorescent in situ hybridization (FISH). We detected 8 numerical and structural chromosomal rearrangements (7 %), and in five of these cases additional types of genomic aberrations were identified. Further studies using original bioinformatic technologies have allowed us to determine the pathogenic aberrations relevant to clinical features in 55 cases (48 %). Twenty two cases (19 %) did not demonstrate genomic abnormalities. Considering these data, it was concluded that the effectiveness of the technology used in our research is about 80 %. Thus, it was demonstrated that the combination of molecular karyotyping and bioinformatic technologies is highly effective for the detection of genomic pathology and determining the molecular mechanisms of mental retardation and autism. Nevertheless, it should be noted that cytogenetic studies are still necessary for detecting genomic pathology in addition to molecular karyotyping.