@article {308224,
	title = {An SRY-negative 47,XXY mother and daughter (Y-chromosome transmission through the mother)},
	journal = {Cytogenet Cell Genet.},
	volume = {91},
	year = {2000},
	pages = {204-7},
	chapter = {204},
	abstract = {<p><span style="color: rgb(0, 0, 0); font-family: arial, helvetica, clean, sans-serif; font-size: 13px; line-height: 19.006px;">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 As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene.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.</span></p>
},
	url = {http://www.karger.com/Article/Abstract/56845},
	author = {R{\"o}ttger, S and Schiebel, K and Senger, G and Ebner, S and Schempp, W and Scherer, G}
}
