A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome. Issue 3 (March 1998)

• Record Type: Journal Article
• Authors: Ogilvie, C M; Raymond, F L; Harrison, R H; Scriven, P N; Docherty, Z
• Is Part Of: Journal of medical genetics. Volume 35:Issue 3(1998)
• Page Start: 234
• Page End: 237
• Publication Date: 1998-03
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.35.3.234
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A patient with a complex chromosome rearrangement and unilateral Rieger 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 this case using a multiprobe fluorescence in situ hybridisation method to show rearrangements unpredictable from G banded analysis, and the clear and unambiguous presentation of the karyotype using computer generated colour ideograms.