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PMID: 2736795 Published · ppublish English Case Reports Journal Article

X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.

Clinical genetics ·Vol. 35 ·No. 6 ·1989-06-00 ·Pages 462-6

Turleau C, Niaudet P, Cabanis MO, Plessis G, Cau D, de Grouchy J

Abstract

A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.

MeSH Terms
Child, Preschool Chromosome Banding Ectodermal Dysplasia/complications,genetics,pathology Female Humans Karyotyping Kidney Diseases/etiology Translocation, Genetic X Chromosome
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
Turleau C
U.173 INSERM-UAC.119 CNRS, Hôpital Necker-Enfants-Malades, France.
Niaudet P
Cabanis M O
Plessis G
Cau D
de Grouchy J
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
DOI
10.1111/j.1399-0004.1989.tb02973.x
Published
1989-06-00
Pages
462-6
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1399-0004.1989.tb02973.x View journal details
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