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Research Article
X/XYq - mosaicism and mixed gonadal dysgenesis.
  1. E Yunis,
  2. R Silva,
  3. E Ramirez,
  4. M A Nossa

    Abstract

    A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length. Evidence for translocation of the Y fluorescent segment to another chromosome was lacking in the present case.

    https://doi.org/10.1136/jmg.14.4.262

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