Original Article

Heredity (1980) 44, 63–68; doi:10.1038/hdy.1980.5

Nucleolus-organiser regions in familial extra metacentric human chromosomes

A -M Salmasi1, S Malcolm2, T Elliott3, R Williamson1 and M A Ferguson-Smith3

  1. 1Department of Biochemistry, St Mary's Hospital Medical School, Paddington, London W2 1PG
  2. 2Department of Biochemistry, Queen Elizabeth College, Campden Hill Road, London W8 7AM
  3. 3Department of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ

Received 19 April 1979.

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Abstract

A small extra bisatellited metacentric chromosome has been found in two unrelated normal females and their foetuses. The presence of two nucleolus-organiser regions (NOR's) on these chromosomes was defined by in situ hybridisation of 28S and 18S ribosomal genes, silver staining and the observation of satellite association. C-banding strongly suggests that they are also dicentric.

The characteristic silver-staining and the high frequency of involvement of the marker chromosome in satellite association indicates the functional activity of the nucleolar-organiser regions on both extra chromosomes. In both cases, it seems likely that the extra chromosome has arisen by a centric fusion translocation and is not an isochromosome, because the chromosome arms show differences in length, satellite size, Ag-staining and participation in satellite association.

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References

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