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

  • Béatrice Plougastel
  • , Philippe Couillin
  • , Véronique Blanquet
  • , Eric Le Guern
  • , Egbert Bakker
  • , Catherine Turleau
  • , Jean de Grouchy
  • , Nicole Créau-Goldberg

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)523-525
Number of pages3
JournalGenomics
Volume14
Issue number2
DOIs
StatePublished - Oct 1992

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