<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Röttger, S</style></author><author><style face="normal" font="default" size="100%">Schiebel, K</style></author><author><style face="normal" font="default" size="100%">Senger, G</style></author><author><style face="normal" font="default" size="100%">Ebner, S</style></author><author><style face="normal" font="default" size="100%">Schempp, W</style></author><author><style face="normal" font="default" size="100%">Scherer, G</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">An SRY-negative 47,XXY mother and daughter (Y-chromosome transmission through the mother)</style></title><secondary-title><style face="normal" font="default" size="100%">Cytogenet Cell Genet.</style></secondary-title></titles><dates><year><style  face="normal" font="default" size="100%">2000</style></year></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.karger.com/Article/Abstract/56845</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">91</style></volume><pages><style face="normal" font="default" size="100%">204-7</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;span style=&quot;color: rgb(0, 0, 0); font-family: arial, helvetica, clean, sans-serif; font-size: 13px; line-height: 19.006px;&quot;&gt;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 As a consequence, Yp material, including SRY, has been replaced by terminal Xp sequences up to the PRKX gene.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.&lt;/span&gt;&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">1-4</style></issue><section><style face="normal" font="default" size="100%">204</style></section></record></records></xml>