Primary amenorrhea with a new mosaic 46,XXqi/47,XXqi Xp-. Consideration on the X isochromosome formation and X chromosome inactivation.
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.
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002503:Centromere; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D012728:Sex Chromatin; D012730:Sex Chromosomes; D013194:Staining and Labeling; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome