title: Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.
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.
authors.affiliation: U173 INSERM, Hôpital Necker Enfants Malades, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Plougastel
authors.forename: P
authors.initials: P
authors.lastname: Couillin
authors.forename: V
authors.initials: V
authors.lastname: Blanquet
authors.forename: E
authors.initials: E
authors.lastname: Le Guern
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: C
authors.initials: C
authors.lastname: Turleau
authors.forename: J
authors.initials: J
authors.lastname: De Grouchy
authors.forename: N
authors.initials: N
authors.lastname: Créau-Goldberg
mesh_terms: D015139:Blotting, Southern; D002873:Chromosome Fragility; D002881:Chromosomes, Human, Pair 12; D002899:Chromosomes, Human, Pair 9; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005260:Female; D006801:Humans; D014178:Translocation, Genetic; D014960:X Chromosome