Constitutional heteromorphism of 9q13 --> q21 in a patient with chronic myelogenous leukemia

Clin Genet. 1995 Jun;47(6):321-3. doi: 10.1111/j.1399-0004.1995.tb03973.x.

Abstract

Cytogenetic studies were carried out in a 44-year-old white male because of newly diagnosed chronic myelogenous leukemia. His initial bone marrow study revealed 46,XY, var(9)(q13 -->q21)/46,XY,var(9) (q13-->q21), t(9;22)(q34;q11) karyotypes and later he also acquired a 47,XY,+8,var(9)(q13-->q21), t(9;22)(q34;q11) clone. The var(9)(q13-->q21) heteromorphism was observed in the normal 9 homolog, in 200 GTG-banded bone marrow metaphases in seven cytogenetic studies (1988-90). This heteromorphism was observed in the normal cell line, in the two chronic myelogenous leukemia-related clones, as well as in 100 mitogen-induced peripheral blood lymphocytes, indicating its constitutional nature. This seems to be the first report of var(9)(q13 --> q21) heteromorphism, involving GTG-positive euchromatic band, in a chronic myelogenous leukemia proband.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Chromatin / chemistry
  • Chromosome Aberrations*
  • Chromosome Banding
  • Chromosomes, Human, Pair 9*
  • Euchromatin
  • Humans
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Male

Substances

  • Chromatin
  • Euchromatin