title: Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders.
abstract: Loss of material from chromosome arm 5q is a common finding in patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). Fluorescence in situ hybridization with a panel of different types of probes, used as a complement to conventional cytogenetics, revealed that 7 of 148 patients (4.7%) with abnormalities of chromosome 5 had an i(5)(p10), an idic(5)(q11), or a structurally rearranged i(5)(p10). Three patients had MDS and four had AML. Six of the patients were female, and one was male; age at diagnosis ranged from 56 to 85 years. All patients but one had a complex karyotype. Isochromosome of the short arm of chromosome 5 and its related abnormalities such as idic(5)(q11) and structurally rearranged i(5)(p10) are rare but recurrent abnormalities; their identification requires a combination of conventional and molecular cytogenetic techniques. The biological and clinical significance cannot yet be assessed, not only because too few cases have been described but also because these abnormalities are usually part of a complex karyotype.
authors.affiliation: Laboratory of Histology, Embryology, and Cytogenetics, Faculty of Medicine and Health Sciences, Université de Bretagne Occidentale, 22 avenue Camille Desmoulins, Brest cedex 3l, France.
authors.forename: Angèle
authors.initials: A
authors.lastname: Herry
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: Nadia
authors.initials: N
authors.lastname: Guéganic
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D012008:Recurrence; D014314:Trisomy