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Case Reports
. 1987 Feb;26(2):503-10.
doi: 10.1002/ajmg.1320260230.

Menkes syndrome in a girl with X-autosome translocation

S Kapur, J V Higgins, K Delp, B Rogers
Case Reports

Menkes syndrome in a girl with X-autosome translocation

S Kapur et al. Am J Med Genet. 1987 Feb.

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.

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