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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

    Abstract

    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.

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