Ultrastructure of the fragile X chromosome: new observations on the fragile site

Am J Med Genet. 1999 Apr 2;83(4):331-3.

Abstract

Using a nonair-drying modification of a method for longitudinal sectioning of metaphase spreads on glass slides [Wen et al., 1997], we have studied 14 preidentified X chromosomes (10 from fragile X specimens and 4 controls) with transmission electron microscopy (TEM). Four of 10 X chromosomes from fragile X specimens exhibited lighter chromatin density in the area of and distal to the fragile site, most pronounced under dark-field TEM. A clear line of separation at the fragile site locus was also observed by TEM in an X chromosome with no visible fragile site after Q-banding. We hypothesize that these areas of lighter density, including lines of separation, precede the appearance of the fragile site that is commonly observed using light microscopy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Fragile Sites
  • Chromosome Fragility / genetics*
  • Fragile X Syndrome / genetics*
  • Humans
  • Microscopy, Electron
  • X Chromosome / ultrastructure*