Evaluation of subtelomeric chromosome regions using multicolour FISH assay

Recent studies have reported that subtelomeric chromosome rearrangements are relatively common in patients with mental retardation and dysmorphic features. Several methods were developed to detect chromosome aberrations involving telomeres. In this report we present the results of our pilot study on chromosome subtelomere screening. The purpose of this investigation was to evaluate the feasibility of using the FISH mutlicolour system for the detection of chromosome telomere aberrations. The analysis included three children. No rearrangements were detected in two patients and loss of the 18p subtelomeric region was observed in one child. This study documents the usefulness of multicolour FISH assay for subtelomere screening and precise characterisation of the derived chromosome. To the best of our knowledge, this is the first report on multiprobe FISH assay for chromosome subtelomeric evaluation in Croatia.