title: Trisomy 21 as the sole abnormality in a refractory anemia with ring sideroblasts.
abstract: Numerous chromosome abnormalities have been described in myelodysplastic syndromes, but single karyotypic aberrations are much less frequent. We report the case of a 65-year-old woman who presented a trisomy 21 as the sole karyotypic anomaly for a refractory anemia with ring sideroblasts. The nature of such an anomaly is discussed in regard to pathogenesis and prognosis.
authors.affiliation: Department of Pathology, CHU Saint-Pierre/ULB Institut Jules Bordet, Brussels, Belgium.
authors.forename: D
authors.initials: D
authors.lastname: Gancberg
authors.forename: A
authors.initials: A
authors.lastname: Kentos
authors.forename: J L
authors.initials: JL
authors.lastname: Dargent
authors.forename: C
authors.initials: C
authors.lastname: Roufosse
authors.forename: G
authors.initials: G
authors.lastname: Dzota
authors.forename: P
authors.initials: P
authors.lastname: Capel
authors.forename: W
authors.initials: W
authors.lastname: Feremans
authors.forename: A
authors.initials: A
authors.lastname: Verhest
mesh_terms: D000368:Aged; D000756:Anemia, Sideroblastic / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology / Q000502:physiology; D004314:Down Syndrome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence