Ullrich‐turner syndrome associated with interstitial deletion of Xp11.4→p22.31

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.