Menkes syndrome in a girl with X-autosome translocation

Am J Med Genet. 1987 Feb;26(2):503-10. doi: 10.1002/ajmg.1320260230.

Abstract

We report on a girl with Menkes syndrome (M.S.) and X-2 reciprocal translocation. We conclude that the probable locus for M.S. gene is at band Xq13. This case and other previous case reports of X-linked disorders in females suggest that chromosome analysis is indicated in all females who present with manifestations of a known X-linked lethal condition in order to detect a possible associated balanced X-autosome translocation.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases, Metabolic / genetics*
  • Female
  • Genetic Linkage
  • Humans
  • Infant
  • Menkes Kinky Hair Syndrome / genetics*
  • Translocation, Genetic*
  • X Chromosome*