Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome

Cancer Genet Cytogenet. 2000 Jan 1;116(1):44-6. doi: 10.1016/s0165-4608(99)00099-0.


Bloom syndrome is a genomic instability syndrome associated with predisposition to development of various types of malignancy. In this report, we described a 7-year-old boy with Bloom syndrome (BS) and myelodysplastic syndrome (MDS) associated with monosomy 7 and loss of the Y chromosome. To our knowledge, this was the first case with BS showing monosomy 7 and MDS during the early childhood period.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Refractory, with Excess of Blasts
  • Bloom Syndrome / genetics*
  • Bloom Syndrome / pathology
  • Bone Marrow / pathology
  • Child
  • Chromosomes, Human, Pair 7*
  • Gene Deletion
  • Humans
  • Leukemia, Myeloid, Acute / genetics
  • Male
  • Monosomy*
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology
  • Prognosis
  • Y Chromosome