Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

Am J Med Genet. 1990 Nov;37(3):336-9. doi: 10.1002/ajmg.1320370308.


We report on a 21-month-old white boy with the Rothmund-Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17 + der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY, + 8 and 47,XY, + i(2q). His lymphocytes had a normal 46,XY pattern. These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instability.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aneuploidy*
  • Cells, Cultured
  • Chromosome Banding
  • Fibroblasts
  • Humans
  • Infant
  • Karyotyping
  • Male
  • Rothmund-Thomson Syndrome / genetics*
  • Syndrome