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Case Reports
. 1983 Mar;14(3):567-76.
doi: 10.1002/ajmg.1320140321.

Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4 leads to p22.31

M G Wilson, O Modebe, J W Towner, S D Frasier, M S Lin
Case Reports

Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4 leads to p22.31

M G Wilson et al. Am J Med Genet. 1983 Mar.

Abstract

The full phenotype of the Ullrich-Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16-year-old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non-mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.

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