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

Jonathan (Jon) Zonana, S. H. Roberts, N. S T Thomas, P. S. Harper

Research output: Contribution to journalArticle

30 Citations (Scopus)

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
StatePublished - 1988
Externally publishedYes

Fingerprint

Anhidrotic Ectodermal Dysplasia 1
Cell Line
Karyotype
Organism Cloning
Fibroblasts
Chromosomes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation. / Zonana, Jonathan (Jon); Roberts, S. H.; Thomas, N. S T; Harper, P. S.

In: Journal of Medical Genetics, Vol. 25, No. 6, 1988, p. 383-386.

Research output: Contribution to journalArticle

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