engleski

Subtle subtelomeric rearrangements in children with developmental delay

The prevalence of mental retardation (MR) is 1-2% in general population, and has serious implications for the affected individual, the family and society. In course of diagnostic management of the patient special attention is paid to genetic investigations. Chromosomal aberration is the most common cause of mental retardation and present in 4-28% of affected individuals. The traditional cytogenetics is however unable to detect genomic abnormalities smaller than 5-10Mb. These small submicroscopic changes of genetic material can be detected my molecular cytogenetic methods. In this study we performed the screening for subtelomeric chromosome rearrangements with multicolour FISH assay in order to determine the frequency of aberrations in our group of children with developmental disabilities. This investigation included 31 children with developmental delay, dysmorphic features and/or congenital anomalies, and normal karyotype. The analysis was performed using slides obtained by short-term culture of peripheral blood lymphocytes a multicolour FISH probe panel ToTelVysisn (Vysis). Aberrations of subtelomers were detected in 2 (6.4%) of patients. Our results point out the usefulness of FISH method for screening subtelomeric regions and present additional evidence that subtle subtelomeric aberrations have important role in the aetiology of mental retardation. Ministry of Science Croatia supported this work (RP-01/072-01).

subtelomeric rearrangements; mental retardation; FISH; molecular cytogenetics

nije evidentirano