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

Genomics. 1992 Oct;14(2):523-5. doi: 10.1016/s0888-7543(05)80259-9.

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.

MeSH terms

  • Blotting, Southern
  • Chromosome Fragility*
  • Chromosomes, Human, Pair 12
  • Chromosomes, Human, Pair 9
  • Ectodermal Dysplasia / genetics*
  • Female
  • Humans
  • Translocation, Genetic*
  • X Chromosome*