PMID: 9541109Apr 16, 1998Paper

A new approach to the elucidation of complex chromosome rearrangements illustrated by a case of Rieger syndrome

Journal of Medical Genetics
C Mackie OgilvieZ Docherty

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.

References

Apr 1, 1992·Journal of Medical Genetics·C VauxL Voullaire
Feb 1, 1988·American Journal of Medical Genetics·J L GorskiB S Emanuel
Jun 1, 1995·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·J S Brazier
May 22, 1995·American Journal of Medical Genetics·Y MakitaY Kuroki
Nov 15, 1994·American Journal of Medical Genetics·D A BatistaG Stetten
Sep 1, 1996·Journal of Medical Genetics·R WallersteinL Jackson
Dec 10, 1997·Journal of Medical Genetics·C Mackie-OgilvieZ Docherty

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Citations

Jan 6, 2006·Human Genetics·Christine FauthMichael R Speicher
Oct 17, 2013·European Journal of Human Genetics : EJHG·Paul N ScrivenCaroline Mackie Ogilvie
Apr 10, 2014·American Journal of Medical Genetics. Part a·Hannah TitheradgeDenise Williams
Sep 21, 2004·American Journal of Medical Genetics. Part a·Julian BarwellFrances Elmslie
Apr 6, 2000·American Journal of Medical Genetics·P WarburtonC M Ogilvie
Jul 29, 2003·American Journal of Medical Genetics. Part a·Angela F DaviesCaroline Mackie Ogilvie
Oct 19, 2016·Acta Ophthalmologica·Morteza SeifiMichael A Walter

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