title: Isochromosome 14q in refractory anemia.
abstract: Trisomy 14 in hematologic disease is a rare finding and is almost exclusively associated with myeloid cell lineage. We present a case of refractory anemia (MDS-RA) with the uncommon features of marked elliptocytosis and schistocytosis in the peripheral blood and isochromosome 14q. The analysis of the clinical outcome of this case and of others of myelodysplastic (MDS)/myeloproliferative syndromes with trisomy 14 as the sole abnormality suggests that it does not confer an unfavorable prognosis.
authors.affiliation: Department of Human Genetics, National Institute of Health, Lisbon, Portugal.
authors.forename: M G
authors.initials: MG
authors.lastname: Boavida
authors.forename: P
authors.initials: P
authors.lastname: Ambrósio
authors.forename: D
authors.initials: D
authors.lastname: Dhermy
authors.forename: C
authors.initials: C
authors.lastname: Silva
authors.forename: M E
authors.initials: ME
authors.lastname: Correia
mesh_terms: D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14; D006801:Humans; D007621:Karyotyping