Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.

Genetic analysis in a tall 14-year-old girl with gonadal dysgenesis and some stigmata of Turner's syndrome revealed a duplication of the short arm in a monocentric X chromosome with partial loss of Xq. We suggest that triple gene dosage of SHOX and estrogen deficiency caused the unique overgrowth.