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

G Binder; T Eggermann; H Enders; M B Ranke; A Dufke

doi:10.1067/mpd.2001.110277

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

J Pediatr. 2001 Feb;138(2):285-7. doi: 10.1067/mpd.2001.110277.

Authors

G Binder¹, T Eggermann, H Enders, M B Ranke, A Dufke

Affiliation

¹ University-Children's Hospital and Growth Research Center, Tübingen, Germany.

PMID: 11174634
DOI: 10.1067/mpd.2001.110277

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.

Publication types

Case Reports

MeSH terms

Adolescent
Body Height
Chromosome Banding
Female
Humans
Sex Chromosome Aberrations / genetics*
Turner Syndrome / genetics*
X Chromosome*