An SRY-negative 47,XXY mother and daughterRöttger S.a · Schiebel K.b · Senger G.c · Ebner S.c · Schempp W.a · Scherer G.a
aInstitut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg; bInstitut für Humangenetik, Universität Heidelberg, Heidelberg; and cPraxis für Medizinische Genetik, Regensburg (Germany)
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Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these sex-reversal cases can be attributed to mutation or deletion of the SRY gene. We now describe an SRY-deleted 47,XXY female who has one son and two daughters, and one of her daughters has the same 47,XXY karyotype. PCR and FISH analysis revealed that the mother carries a structurally altered Y chromosome that most likely resulted from an aberrant X-Y interchange between the closely related genomic regions surrounding the gene pair PRKX and PRKY on Xp22.3 and Yp11.2, respectively. As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene. The fertility of the XXY mother can be attributed to the presence of the additional X chromosome that is missing in XY gonadal dysgenesis females. To our knowledge, this is the first human XXY female described who is fertile.
© 2001 S. Karger AG, Basel
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