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  • Title: Primary amenorrhea with a new mosaic 46,XXqi/47,XXqi Xp-. Consideration on the X isochromosome formation and X chromosome inactivation.
    Author: Halbrecht I, Shabtai F, Kuperstain C.
    Journal: Acta Genet Med Gemellol (Roma); 1977; 26(1):63-9. PubMed ID: 71839.
    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.
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