Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease

Cytogenet Cell Genet. 1988;48(4):224-7. doi: 10.1159/000132633.

Abstract

A 21-year-old Fanconi anemia patient developed refractory anemia. Laboratory studies revealed a transitory increased platelet count and a typical del(5q). Bone marrow karyotyping showed a -6, +der(6)t(1;6)(q12;p25) rearrangement and, two years later, a mosaic -6, +der(6),t(1:6)(q12;p25)/-2, +der 2), t(1;2)(q12;q37) constitution. The chromosome mechanism operating in this patient is discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Aplastic / genetics*
  • Bone Marrow / pathology*
  • Bone Marrow / ultrastructure
  • Cell Nucleus / ultrastructure
  • Chromosome Aberrations / pathology*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 1 / ultrastructure*
  • Chromosomes, Human, Pair 5 / ultrastructure*
  • Fanconi Anemia / genetics*
  • Fanconi Anemia / pathology
  • Humans
  • Karyotyping*
  • Lymphocytes / pathology
  • Lymphocytes / ultrastructure
  • Male
  • Sex Chromosome Aberrations / pathology
  • X Chromosome / ultrastructure*