title: An SRY-negative 47,XXY mother and daughter.
abstract: 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 As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene.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.
authors.affiliation: Institut für Humangenetik und Anthropologie, Universität Freiburg, Freiburg , Germany.
authors.forename: S
authors.initials: S
authors.lastname: Röttger
authors.forename: K
authors.initials: K
authors.lastname: Schiebel
authors.forename: G
authors.initials: G
authors.lastname: Senger
authors.forename: S
authors.initials: S
authors.lastname: Ebner
authors.forename: W
authors.initials: W
authors.lastname: Schempp
authors.forename: G
authors.initials: G
authors.lastname: Scherer
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D005298:Fertility / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009679:Nuclear Family; D009687:Nuclear Proteins; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011995:Recombination, Genetic / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors