Article Text

Download PDFPDF
X;Y translocation in an adolescent mentally normal phenotypic male with features of hypogonadism.
  1. R Bernstein,
  2. M R Pinto,
  3. M Almeida,
  4. S M Solarsh,
  5. J Meck,
  6. T Jenkins


    Cytogenetic studies on a 17-year-old phenotypic male, with short stature and clinical and hormonal features of hypogonadism similar to those of an XX male, revealed an X;Y translocation, karyotype, 46,Xt(X;Y)(p22;?p11?q11). He was H-Y antigen positive. X inactivation studies showed inactivation of the abnormal X in the majority of cells (60 to 70%) and inactivation of the normal X in the remaining cells. Gene marker studies, including Xg blood grouping, showed no anomalous segregation. This patient is the second reported male showing a positively identified X;Y tanslocation with no detectable free Y chromosome and provides further indirect evidence for an X-Y interchange in the aetiology of XX male sex reversal.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.