title: Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
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.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff.
authors.forename: J
authors.initials: J
authors.lastname: Zonana
authors.forename: S H
authors.initials: SH
authors.lastname: Roberts
authors.forename: N S
authors.initials: NS
authors.lastname: Thomas
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D002460:Cell Line; D002899:Chromosomes, Human, Pair 9; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D014178:Translocation, Genetic; D014960:X Chromosome