Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome

Citation
N. Yaegashi et al., Association of intrauterine growth retardation with monosomy of the terminal segment of the short arm of the X chromosome in patients with Turner's syndrome, GYNECOL OBS, 50(4), 2000, pp. 237-241
Citations number
16
Language
INGLESE
art.tipo
Article
Categorie Soggetti
da verificare
Journal title
GYNECOLOGIC AND OBSTETRIC INVESTIGATION
ISSN journal
0378-7346 → ACNP
Volume
50
Issue
4
Year of publication
2000
Pages
237 - 241
Database
ISI
SICI code
0378-7346(2000)50:4<237:AOIGRW>2.0.ZU;2-6
Abstract
Short stature, which may be a result of intrauterine growth retardation (IU GR), is a characteristic of Turner's syndrome. However, the loci responsibl e for IUGR have not been well studied. We reviewed the birth records of 74 patients with Turner's syndrome: 20 with pure X monosomy, 44 with X-mosaici sms, and 10 with X-structural abnormalities. The overall incidence of IUGR was 39.2% (29 of 74 patients). The SHOX gene is encoded in a terminal segme nt of the short arm of the X chromosome. In 39 patients where two copies of the SHOX gene were absent, the incidence of IUGR was 46.2% (18 of 39 patie nts). In 14 patients with two copies of the SHOX gene, the incidence of IUG R was significantly lower at 7.1% (1 of 14 patients). Our results suggest t hat SHOX influences in utero growth in Turner's syndrome. Copyright (C) 200 0 S. Karger AG, Basel.