An SRY-negative 47,XXY mother and daughter

Females with XY gonadal dysgenesis are sterile, due to degeneration of the initially present ovaries into nonfunctional streak gonads. Some of these s ex-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 daug hters, and one of her daughters has the same 47,XXY karyotype. PCR and FISH analysis revealed that the mother carries a structurally altered Y chromos ome 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 As a consequence, Yp material, including S RY, has been replaced by terminal Xp sequences up to the PRKX gene. The fer tility of the XXY mother can be attributed to the presence of the additiona l X chromosome that is missing in XY gonadal dysgenesis females. To our kno wledge, this is the first human XXY female described who is fertile. Copyri ght (C) S.Karger AG, Basel.