At. Sumner et al., A FISH STUDY OF CHROMOSOME FUSION IN THE ICF SYNDROME - INVOLVEMENT OF PARACENTRIC HETEROCHROMATIN BUT NOT OF THE CENTROMERES THEMSELVES, Journal of Medical Genetics, 35(10), 1998, pp. 833-835
We have used double fluorescence in situ hybridisation to study the in
volvement of centromeres and paracentromeric heterochromatin in the ch
romosome abnormalities seen in the ICF syndrome. To detect centromeres
, we used a probe which labelled alphoid satellite DNA, and for the pa
racentromeric heterochromatin a probe for classical satellite II. Our
results show that it is always the paracentromeric heterochromatin of
the relevant chromosomes that becomes decondensed in this syndrome and
which fuses to produce multiradial configurations. However, the centr
omeric regions, identified by their content of alphoid satellite DNA,
appear never to become decondensed and always remain outside the regio
ns of chromosome fusion in the multiradials.