Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

Am J Med Genet. 1992 Jul 15;43(5):839-43. doi: 10.1002/ajmg.1320430517.

Abstract

We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31.

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum*
  • Chromosome Deletion*
  • Female
  • Focal Dermal Hypoplasia / genetics*
  • Genes, Dominant / genetics
  • Humans
  • Infant
  • Syndrome
  • X Chromosome*