A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

@inproceedings{Shahid2010ASB,
  title={A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient},
  author={Mohammad Shahid and Varinderpal Dhillon and Hesham Khalil and Shameemul Haque and Swaraj Batra and Syed Akhtar Husain and Leendert H. J. Looijenga},
  booktitle={BMC Medical Genetics},
  year={2010}
}
Sex determining factor (SRY) located on the short arm of the Y chromosome, plays an important role in initiating male sex determination, resulting in development of testicular tissue. Presence of the SRY gene in females results in XY sex reversal and increased risk of gonadal germ cell tumours if the karyotype also includes the so-called GonadoBlastoma on the Y chromosome (GBY) region. The majority of mutations within the SRY gene are de novo affecting only a single individual in the family… CONTINUE READING
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