title: Fluorescence in situ hybridisation studies to characterise complete and partial monosomy 7 in myeloid disorders.
abstract: 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 Alu-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 to 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(l)t(1;7)(p11;p11) was redefined as dic(1;7)(p11;q11). The application of FISH has enabled a more accurate characterisation of chromosome abnormalities, and extended studies of this type may eventually lead to more precise prognostic groups defined by karyotype.
authors.affiliation: Department of Medical Oncology, St. Bartholomew's Hospital, London, UK.
authors.forename: B
authors.initials: B
authors.lastname: Gibbons
authors.forename: D M
authors.initials: DM
authors.lastname: Lillington
authors.forename: S
authors.initials: S
authors.lastname: Monard
authors.forename: B D
authors.initials: BD
authors.lastname: Young
authors.forename: K L
authors.initials: KL
authors.lastname: Cheung
authors.forename: T A
authors.initials: TA
authors.lastname: Lister
authors.forename: L
authors.initials: L
authors.lastname: Kearney
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000235:genetics*