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PMID: 1427872 Published · ppublish English Journal Article

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

Genomics ·Vol. 14 ·No. 2 ·1992-10-00 ·Pages 523-5

Plougastel B, Couillin P, Blanquet V, Le Guern E, Bakker E, Turleau C, De Grouchy J, Créau-Goldberg N

Abstract

Cellular hybrids were obtained from a t(X;12) identified in a female patient with hypohidrotic ectodermal dysplasia (EDA). This rearrangement had the same Xq13.1 cytogenetic breakpoint as a t(X;9) found in a previously observed EDA patient. A comparative analysis of these two rearrangements with nine probes was performed at the molecular level. These probes could define three subregions: three are proximal, two are distal, and four are between the two breakpoints. These last probes should prove useful for cloning the gene.

Related Genes
EDA
MeSH Terms
Blotting, Southern Chromosome Fragility Chromosomes, Human, Pair 12 Chromosomes, Human, Pair 9 Ectodermal Dysplasia/genetics Female Humans Translocation, Genetic X Chromosome
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Plougastel B
U173 INSERM, Hôpital Necker Enfants Malades, Paris, France.
Couillin P
Blanquet V
Le Guern E
Bakker E
Turleau C
De Grouchy J
Créau-Goldberg N
Article Info
Journal
Genomics
Abbr.
Genomics
ISSN
0888-7543
Published
1992-10-00
Pages
523-5
Language
English
Region
United States
NLM ID
8800135
Subset
IM
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