Ullrich-Turner syndrome associated with interstitial deletion of Xp11.4 leads to p22.31.
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.
D000293:Adolescent; D002872:Chromosome Deletion; D005260:Female; D006801:Humans; D009634:Noonan Syndrome / Q000235:genetics*; D010641:Phenotype; D012730:Sex Chromosomes; D014960:X Chromosome