Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.

@article{KalzFller1999CharacterisationPM,
  title={Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations.},
  author={Burga Kalz-F{\"u}ller and Eleonore J A Sleegers and Gesa Schwanitz and Regine Schubert},
  journal={Clinical genetics},
  year={1999},
  volume={55 5},
  pages={
          362-6
        }
}
Here we describe a group of 14 patients carrying different X-autosome translocations and exhibiting phenotypes that demonstrate the range of alterations induced by such aberrations. All male carriers of an X-autosome translocation in our investigation group were infertile, whereas fertility in the female carriers was dependent on the position of the break-point in the X chromosome. Fertile women with translocation break-points outside of the critical region (Xq13-q26) in some cases passed on… CONTINUE READING
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