Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
- 1 June 1988
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (6) , 383-386
- https://doi.org/10.1136/jmg.25.6.383
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.This publication has 18 references indexed in Scilit:
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