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

doi:10.1136/jmg.25.6.383

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 journal › Article › peer-review

36 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 language	English (US)
Pages (from-to)	383-386
Number of pages	4
Journal	Journal of medical genetics
Volume	25
Issue number	6
DOIs	https://doi.org/10.1136/jmg.25.6.383
State	Published - 1988
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1136/jmg.25.6.383

Cite this

@article{ca24a03d9e5c462baa5b6e71b9e8660a,

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.",

author = "J. Zonana and Roberts, {S. H.} and Thomas, {N. S.T.} and Harper, {P. S.}",

year = "1988",

doi = "10.1136/jmg.25.6.383",

language = "English (US)",

volume = "25",

pages = "383--386",

journal = "Journal of medical genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "6",

}

TY - JOUR

T1 - Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X;autosome balanced translocation

AU - Zonana, J.

AU - Roberts, S. H.

AU - Thomas, N. S.T.

AU - Harper, P. S.

PY - 1988

Y1 - 1988

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=0023765667&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023765667&partnerID=8YFLogxK

U2 - 10.1136/jmg.25.6.383

DO - 10.1136/jmg.25.6.383

M3 - Article

C2 - 3398005

AN - SCOPUS:0023765667

SN - 0022-2593

VL - 25

SP - 383

EP - 386

JO - Journal of medical genetics

JF - Journal of medical genetics

IS - 6

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this