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

Authors
Binder, G Eggermann, T Enders, H Ranke, MB Dufke, A
Citation
G. Binder et al., Tall stature, gonadal dysgenesis, and stigmata of Turner's syndrome causedby a structurally altered X chromosome, J PEDIAT, 138(2), 2001, pp. 285-287
Citations number
14
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
JOURNAL OF PEDIATRICS
ISSN journal
00223476 → ACNP
Volume
138
Issue
2
Year of publication
2001
Pages
285 - 287
Database
ISI
SICI code
0022-3476(200102)138:2<285:TSGDAS>2.0.ZU;2-U
Abstract
Genetic analysis in a tall 14-year-old girl with gonadal dysgenesis and som 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 g ene dosage of SHOX and estrogen deficiency caused the unique overgrowth.