Molecular cytogenetic analysis of XX males using Y-specific DNA sequences,including SRY |
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| Authors: | B Van der Auwera N Van Roy A De Paepe J R Hawkins I Liebaers S Castedo J Dumon F Speleman |
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| Institution: | (1) Department of Medical Genetics, University of Antwerp-UIA, Universiteitsplein 1, Building T, B -2610 Wilrijk, Belgium;(2) Department of Medical Genetics, University Hospital Gent, B-9000 Gent, Belgium;(3) Imperial Cancer Research Fund, Lincoln's Inn Fields, WC2A 3PX London, UK;(4) Department of Medical Genetics, Free University of Brussels, B-1090 Brussels, Belgium;(5) Department of Medical Genetics, Medical Faculty of Porto, Hospital S. Joao, Porto, Portugal |
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| Abstract: | Summary XX maleness is the most common condition in which testes develop in the absence of a cytogenetically detectable Y chromosome. Using molecular techniques, it is possible to detect Yp sequences in the majority of XX males. In this study, we could detect Y-specific sequences, including the sex-determining region of the Y chromosome (SRY), using fluorescence in situ hybridization. In 5 out of 6 previously unpublished XX males, SRY was translocated onto the terminal part of an X chromosome. This is the first report in which translocation of an SRY-bearing fragment to an X chromosome in XX males could be directly demonstrated. |
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