A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

@article{Schanen1997ANR,
  title={A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.},
  author={N. Carolyn Schanen and Eirik Dahle and Fiorentino Capozzoli and Vanja A Holm and Huda Y. Zoghbi and Uta Francke},
  journal={American journal of human genetics},
  year={1997},
  volume={61 3},
  pages={634-41}
}
Although familial recurrences of Rett syndrome (RTT) comprise only approximately 1% of the reported cases, it is these cases that hold the key for the understanding of the genetic basis of the disorder. Families in which RTT occurs in mother and daughter, aunt and niece, and half sisters are consistent with dominant inheritance and variable expressivity of the phenotype. Recurrence of RTT in sisters is likely due to germ-line mosaicism in one of the parents, rather than to recessive inheritance… CONTINUE READING
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