Menkes syndrome in a girl with X-autosome translocation.
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.
D001928:Brain Diseases, Metabolic / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome