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Author | dc.contributor.author | Petit, Christine | |
Author | dc.contributor.author | de la Chapelle, Albert | |
Author | dc.contributor.author | Levilliers, Jacqueline | |
Author | dc.contributor.author | Castillo, Sylvia | |
Author | dc.contributor.author | Noël, Bernard | |
Author | dc.contributor.author | Weissenbach, Jean | |
Admission date | dc.date.accessioned | 2019-01-29T14:47:56Z | |
Available date | dc.date.available | 2019-01-29T14:47:56Z | |
Publication date | dc.date.issued | 1987 | |
Cita de ítem | dc.identifier.citation | Cell, Volumen 49, Issue 5, 2018, Pages 595-602 | |
Identifier | dc.identifier.issn | 00928674 | |
Identifier | dc.identifier.other | 10.1016/0092-8674(87)90535-6 | |
Identifier | dc.identifier.uri | https://repositorio.uchile.cl/handle/2250/160669 | |
Abstract | dc.description.abstract | To determine if human XX maleness results from an abnormal chromosomal X-Y interchange, we studied the inheritance of the paternal pseudoautosomal region in nine patients. Those six patients in whom Y-specific DNA was found (Y(+)) inherited the entire pseudoautosomal region from the paternal Y chromosome and lost that of the paternal X chromosome. Moreover, in three Y(+) cases, we observed the deletion of a paternal Xp locus tightly linked to the pseudoautosomal region. These results definitively show that an abnormal and terminal X-Y interchange during paternal meiosis causes Y(+)XX maleness. In contrast, no abnormal X-Y interchange was observed in any of the three Y(-) cases analyzed, suggesting that maleness can occur in the absence of any Y-specific DNA. © 1987. | |
Lenguage | dc.language.iso | en | |
Type of license | dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
Link to License | dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
Source | dc.source | Cell | |
Keywords | dc.subject | Biochemistry, Genetics and Molecular Biology (all) | |
Título | dc.title | An abnormal terminal X-Y interchange accounts for most but not all cases of human XX maleness | |
Document type | dc.type | Artículo de revista | |
Cataloguer | uchile.catalogador | SCOPUS | |
Indexation | uchile.index | Artículo de publicación SCOPUS | |
uchile.cosecha | uchile.cosecha | SI | |
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