CYTOGENETIC AND MOLECULAR-CYTOGENETIC STUDIES OF AUTISTIC DISORDERS: IDENTIFICATION OF FAMILY DIAGNOSTIC BIOMARKERS
Autism is one of the most common childrens mental disorders. It has been recently demonstrated that many cases of this disorder are linked to chromosome displacements. Using cytogenetic and molecular-cytogenetic techniques of studying chromosomes, 109 children with autism and 98 their mothers as well as the control group (60 children and 40 mothers) have been analysed. It has been found that there are chromosome anomalies (including chromosomal mosaicism) and chromosome variation in children with autism in 20.2% and 47.7% of cases, respectively. Chromosomal anomalies and variations have been identified in mothers of children with autism in 17% and 63.3% of cases respectively. In most cases, chromosomal variations and anomalies in children are inherited on the maternal side. Chromosomal anomalies and variations are, therefore, family diagnostic biomarkers of autistic disorders. Based on the test results a conclusion may be drawn that cytogenetical and molecular-cytogenetical diagnostics is necessary for identifying genetic causes of autism and for medical genetic advice to families with autistic children.