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Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
  1. J Zonana,
  2. S H Roberts,
  3. N S Thomas,
  4. P S Harper
  1. Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.

    Abstract

    We have restudied a fibroblast cell line from a female with marked manifestations of X linked hypohidrotic ectodermal dysplasia (HED) and a balanced X;9 translocation. Chromosome analysis showed a karyotype of 46,X,t(X;9)(q13.1;p24) with an Xq breakpoint distal to the one previously reported. The significance of the cell line, previously unrecognised, for the mapping and eventual cloning of the HED locus is discussed.

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