Roberts' syndrome. I. Cytological evidence for a disturbance in chromatid pairing

Clin Genet. 1979 Dec;16(6):441-7. doi: 10.1111/j.1399-0004.1979.tb01354.x.

Abstract

In the rare developmental disorder Roberts' syndrome, prophase and metaphase chromosomes display premature sister-chromatid separation, most prominently at certain regions in which the chromatin is composed of highly reiterated base sequences. In addition, interphase nuclei present a striking distortion in their contours. The observed abnormalities are interpreted as evidence for the presence of a genetically determined disturbance affecting the normal mechanisms for pairing and disjoining of sister chromatids.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Chromatids / ultrastructure*
  • Chromosome Aberrations
  • Chromosome Banding
  • Dwarfism / genetics
  • Humans
  • Male
  • Metaphase
  • Prophase
  • Syndrome