Translocation of the nucleolus organizer region to the human X chromosome

G. Stetten, B. Sroka, M. Schmidt, J. Axelman, B. R. Migeon

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


We report the unique finding of a satellited X chromosome in a woman with Turner syndrome and a mosaic karyotype 45,X/46,X,mar(X)(sat,QFQ55),var(21)(sat,QFQ55). In PHA-stimulated lymphocytes and in lymphoblast culture, the satellited X chromosome was consistently late replicating. The translocated nucleolus organizer region (NOR) genes in the stalk of the satellite, however, remained transcriptionally active, and an unusual, late-replicating band was seen at the distal end of Xp. Analysis of fibroblast clones containing the satellited X chromosome suggests that the mar(X) is relatively stable.

Original languageEnglish (US)
Pages (from-to)245-252
Number of pages8
JournalAmerican journal of human genetics
Issue number2
StatePublished - Dec 30 1986

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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