PT  - JOURNAL ARTICLE
AU  - Zonana, J
AU  - Roberts, S H
AU  - Thomas, N S
AU  - Harper, P S
TI  - Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.
AID  - 10.1136/jmg.25.6.383
DP  - 1988 Jun 01
TA  - Journal of Medical Genetics
PG  - 383--386
VI  - 25
IP  - 6
4099  - http://jmg.bmj.com/content/25/6/383.short
4100  - http://jmg.bmj.com/content/25/6/383.full
SO  - J Med Genet1988 Jun 01; 25
AB  - 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.