Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation

J. Zonana, S. H. Roberts, N. S.T. Thomas, P. S. Harper

Research output: Contribution to journalArticle

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)383-386
Number of pages4
JournalJournal of medical genetics
Volume25
Issue number6
DOIs
StatePublished - 1988

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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