Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.

Abstract

Rett syndrome (RS) was diagnosed in a girl with a t(X;22) (p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a "forme fruste" of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may… (More)

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Cite this paper

@article{Journel1990RettPW, title={Rett phenotype with X/autosome translocation: possible mapping to the short arm of chromosome X.}, author={Hubert Journel and Judith Melki and Catherine Turleau and Arnold Munnich and J de Grouchy}, journal={American journal of medical genetics}, year={1990}, volume={35 1}, pages={142-7} }