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Women heterozygous for deficiency of the (p21 → pter) region of the X chromosome are fertile

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Summary

A woman balanced carrier of a X/15 translocation gave birth to a balanced infertile son and three unbalanced Xp- fertile daughters. This family and the other eleven cases of Xp- fertile women found in the literature demonstrate that loss of the p21 → pter region of the X chromosome is compatible with fertility, probably because it leaves on Xp the region which is never inactivated.

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Fraccaro, M., Maraschio, P., Pasquali, F. et al. Women heterozygous for deficiency of the (p21 → pter) region of the X chromosome are fertile. Hum Genet 39, 283–291 (1977). https://doi.org/10.1007/BF00295421

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  • DOI: https://doi.org/10.1007/BF00295421

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