Chromosome abnormalities in bone marrow of Fanconi anemia patients

Cancer Genet Cytogenet. 1993 Jan;65(1):47-50. doi: 10.1016/0165-4608(93)90057-s.

Abstract

We report the clonal chromosome abnormalities of five patients with Fanconi anemia (FA). In one with myelodysplastic syndrome (MDS), an abnormal clone was present in the bone marrow (BM): 47,XY,trp(1)(q32q44), + mar. Two had acute myeloblastic leukemia (AML), one with monosomy 7 and the other with 46,XY,add(1)(p34),del(7)(p13). In the two others without signs of MDS or AML, pseudodiploidy with 46,XX,-5, +8 and 46,XX, +5, -21 were present, respectively. The significance of these abnormalities is discussed.

MeSH terms

  • Adult
  • Bone Marrow / pathology*
  • Child
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 5
  • Chromosomes, Human, Pair 7
  • Chromosomes, Human, Pair 8
  • Fanconi Anemia / complications
  • Fanconi Anemia / genetics*
  • Female
  • Humans
  • Infant
  • Karyotyping
  • Leukemia, Myeloid, Acute / etiology
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Myelodysplastic Syndromes / etiology
  • Myelodysplastic Syndromes / genetics*
  • Preleukemia / genetics
  • Ring Chromosomes