A NEW APPROACH TO THE ELUCIDATION OF COMPLEX CHROMOSOME REARRANGEMENTS ILLUSTRATED BY A CASE OF RIEGER-SYNDROME

A patient with a complex chromosome rearrangement and unilateral Riege r syndrome is presented. This rearrangement involves four chromosomes and six breakpoints, one of which is at 4q25, the candidate region for Rieger syndrome. We discuss a novel approach to the elucidation of th is case using a multiprobe fluorescence in situ hybridisation method t o show rearrangements unpredictable from G banded analysis, and the cl ear and unambiguous presentation of the karyotype using computer gener ated colour ideograms.