A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

@article{Ion1996ANM,
  title={A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.},
  author={Andra Ion and Louise Telvi and Jean Louis Chaussain and Fr{\'e}d{\'e}ric Galact{\'e}ros and Jacques Valayer and M. Fellous and Ken Mcelreavey},
  journal={American journal of human genetics},
  year={1996},
  volume={58 6},
  pages={1185-91}
}
We describe a pedigree presenting X-linked severe mental retardation associated with multiple congenital abnormalities and 46,XY gonadal dysgenesis, leading in one family member to female gender assignment. Female carriers are unaffected. The dysmorphic features are similar to those described in the alpha-thalassemia and mental retardation (ATR-X) syndrome, although there is no clinical evidence of alpha-thalassemia in this family. In addition, the family had other clinical features not… CONTINUE READING

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