SRY gene transferred to the long arm of the X- chromosome in a Y- positive XX true hermaphrodite

Ester Margarit, M. Dolors Coll, Rafael Oliva, David Gómez, Anna Soler, Francisca Ballesta

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    28 Citations (Scopus)


    Yp-specific sequences, including the testicular determinant gene SRY, have been detected and located in a 46,XX true hermaphrodite individual, using PCR amplification and fluorescent in situ hybridization (FISH). Among different Y chromosome loci tested, it was only possible to detect Yp sequences. The Y-centromere and Yq sequences were absent. Unexpectedly, the Y fragment was translocated to the long arm of one of the X chromosomes, at the Xq28 level, and the derivative (X) chromosome of the patient lacked q- telomeric sequences. To our knowledge, this is the first Yp/Xq translocation reported. The coexistence of testicular and ovarian tissue in the patient may have arisen by differential inactivation of the Y-bearing X chromosome, in which Xq telomeric sequences are missing. The possible origin of the Yp/Xq translocation, during paternal meiosis or in somatic paternal cells, is discussed.
    Original languageEnglish
    Pages (from-to)25-28
    JournalAmerican Journal of Medical Genetics
    Issue number1
    Publication statusPublished - 8 Jan 2000


    • Sex determination
    • SRY gene
    • Translocation
    • True hermaphroditism
    • X
    • X- inactivation


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