Fluorescence in situ hybridisation studies to characterise complete and partial monosomy 7 in myeloid disorders

✍ Scribed by Barbara Gibbons; Debra M. Lillington; Simon Monard; Bryan D. Young; Kan Luk Cheung; T. Andrew Lister; Lyndal Kearney

• Book ID: 102846774
• Publisher: John Wiley and Sons
• Year: 1994
• Tongue: English
• Weight: 580 KB
• Volume: 10
• Category: Article
• ISSN: 1045-2257
• DOI: 10.1002/gcc.2870100404

✦ Synopsis

Eight patients with myeloid disorders characterised by a karyotype including apparent monosomy or partial monosomy 7, in the presence of a ring or marker chromosome, were investigated by fluorescence in situ hybridisation (FISH) with a chromosome 7 centromere-specific probe and an Ah-PCR derived chromosome 7 paint. In 4 of 5 cases a ring chromosome was shown to be of chromosome 7 origin; in one of these the apparent ring was shown t o consist solely of chromosome 7 centromeric material, and in the fifth case the ring was derived from chromosome 18. In three cases monosomy 7 had arisen during the course of karyotype evolution and was clearly not the primary cytogenetic abnormality. One further case demonstrated fragmentation and cryptic translocation of chromosome 7 material. In the last case a chromosome described as der( I)t( 1;7)(p I I ;PI I) was redefined as dic( 1;7)(pl 1; q I I). The application of FISH has enabled a more accurate characterisation of chromosome abnormalities, and extended studies of this type may eventually lead t o more precise prognostic groups defined by karyotype. Genes Chromosom Cancer 10:244-249 (I 994).