Primary Amenorrhea with a New Mosaic 46,XXqi/47,XXqi Xp-—Consideration on the X isochromosome formation and X chromosome inactivation

Abstract

A case of Turner's syndrome was found to be 46,XXqi/47XX,qi Xp-, a new mosaic. The origin of such a mosaic, the formation of the Xq isochromosome using the C-banding technique, and the X chromosome inactivation are discussed. The Xq isochromosome was apparently monocentric, but probably with two strictly close centromeres. The inactivated X seemed to be the Xqi or the normal X alternatively.