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.
Binder
G
G
University-Children's Hospital and Growth Research Center, Tübingen, Germany.
Eggermann
T
T
Enders
H
H
Ranke
M B
MB
Dufke
A
A
D000293:Adolescent; D001827:Body Height; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome