Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.

Abstract

A 10-year-old girl with Ullrich-Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the alpha satellite X centromere probe established the origin of the small ring chromosome. Scanning a large number of cells by interphase FISH showed that the dicentric (X) was the… (More)

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@article{Robson1994NovelKI, title={Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.}, author={Leonie Robson and J. Jackson and Christopher T Cowell and Daniel John Sillence and A. Smith}, journal={American journal of medical genetics}, year={1994}, volume={50 3}, pages={251-4} }