Three patients with ring (X) chromosomes and a severe phenotype.


Three patients with mosaicism and a cell line containing a small ring (X) chromosome are described. Their phenotype is similar to several previously reported patients with a 45,X/46,X,r(X) karyotype and a phenotype far more severely affected than expected in Turner's syndrome. The clinical picture includes mental retardation, a facial appearance reminiscent… (More)


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@article{Dennis1993ThreePW, title={Three patients with ring (X) chromosomes and a severe phenotype.}, author={N. R. Dennis and Amanda L. Collins and J. A. Crolla and Annette E. Cockwell and Alaric Fisher and Patric Jacobs}, journal={Journal of medical genetics}, year={1993}, volume={30 6}, pages={482-6} }