Scientific article

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

Published inAmerican journal of medical genetics, vol. 59, no. 2, p. 174-181
Publication date1995

Acute leukemia in Down syndrome (DS) is often associated with additional changes in the number or structure of chromosome 21. We present two DS patients whose leukemic karyotypes were associated with changes in chromosome 21 ploidy. Patient 1 developed acute lymphocytic leukemia (type L1); disomy for chromosome 21 was evident in all blast cells examined. Loss of the paternal chromosome in the leukemic clone produced maternal uniparental disomy with isodisomy over a 25-cM interval. The second patient had acute monoblastic leukemia (type M5) with tetrasomy 21 in all leukemic cells. DNA polymorphism analysis showed duplicate paternal chromosomes in the constitutional genotype. The maternal chromosome was subsequently duplicated in the leukemic clone. The distinct inheritance patterns of chromosome 21 in the blast cells of these patients would appear to indicate that leukemogenesis occurred by different genetic mechanisms in each individual.

  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 21
  • DNA, Neoplasm/genetics
  • Down Syndrome/ complications/ genetics
  • Female
  • Genotype
  • Humans
  • Leukemia, Monocytic, Acute/ complications/ genetics
  • Polymorphism, Genetic
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma/ complications/ genetics
Citation (ISO format)
ROGAN, P. K. et al. Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia. In: American journal of medical genetics, 1995, vol. 59, n° 2, p. 174–181. doi: 10.1002/ajmg.1320590212
ISSN of the journal0148-7299

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