Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome caused by a structurally altered X chromosome.
case_report · Level V
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Abstract
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.
Medical subject headings
- Sex Chromosome Aberrations
- Turner Syndrome
- X Chromosome