title: Familial myelodysplasia: progressive disease associated with emergency of monosomy 7.
abstract: Two brothers developed hypoplastic anaemia with the development in one of refractory anaemia with excess blasts (RAEB) accompanied by emergence of monosomy 7. Both brothers have a constitutional inversion of chromosome 1. Neither shows the increased chromosomal fragility of Fanconi's anaemia or its variants. This family is the third reported in which monosomy 7 has been found when leukaemic or preleukaemic transformation has occurred in patients with familial hypoplastic anaemia.
mesh_terms: D000293:Adolescent; D000328:Adult; D000754:Anemia, Refractory, with Excess of Blasts / Q000235:genetics; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D007621:Karyotyping; D008297:Male; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics*