Human Genetics

, Volume 60, Issue 2, pp 126–129 | Cite as

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation

  • Bernard Hellkuhl
  • Albert de la Chapelle
  • Karl-Heinz Grzeschik
Original Investigations


In lymphocytes of a human female carrier of a balanced X;3 translocation, 46,X,t(X;3)(q28;q21), late replication of the structurally normal X chromosome only was previously described (de la Chapelle and Schröder 1973). We have now confirmed this finding using a fresh blood sample. Examining the chromosomes of this individual in fibroblasts we observed that either the normal X or the Xq+ chromosome could replicate late and show inactivity after fusion with heteroploid mouse cells. The replication patterns of chromosomes in human X;autosome translocations have so far almost exclusively been analyzed in lymphocytes. Our findings stress that results based on these cells are not representative for all cell types.


Internal Medicine Blood Sample Metabolic Disease Mouse Cell Fresh Blood 
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Copyright information

© Springer-Verlag 1982

Authors and Affiliations

  • Bernard Hellkuhl
    • 1
  • Albert de la Chapelle
    • 2
  • Karl-Heinz Grzeschik
    • 1
  1. 1.Institut für HumangenetikUniversität MünsterMünsterGermany
  2. 2.Department of Medical GeneticsUniversity of HelsinkiHelsinki 29Finland

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