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      • Department of Molecular Biology and Genetics
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      Two Males with SRY-Positive 46, XX Testicular Disorder of Sex Development

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      Author
      Gunes, S.
      Asci, R.
      Okten, G.
      Atac, F.
      Onat, O. E.
      Ogur, G.
      Aydin, O.
      Ozcelik, T.
      Bagci, H.
      Date
      2013
      Source Title
      Systems Biology in Reproductive Medicine
      Print ISSN
      1939-6368
      Electronic ISSN
      1939-6376
      Publisher
      Taylor & Francis
      Volume
      59
      Issue
      1
      Pages
      42 - 47
      Language
      English
      Type
      Article
      Item Usage Stats
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      Abstract
      The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients. © 2013 Informa Healthcare USA, Inc.
      Keywords
      46,XX Testicular DSD
      Mosaicism
      SRY positive
      XCI
      Permalink
      http://hdl.handle.net/11693/21097
      Published Version (Please cite this version)
      http://dx.doi.org/10.3109/19396368.2012.731624
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