Abstract
Short stature, which may be a result of intrauterine growth retardation (IUGR), is a characteristic of Turner's syndrome. However, the loci responsible 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-mosaicisms, 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 segment 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 patients). In 14 patients with two copies of the SHOX gene, the incidence of IUGR was significantly lower at 7.1% (1 of 14 patients). Our results suggest that SHOX influences in utero growth in Turner's syndrome. Copyright (C) 2000 S. Karger AG, Basel.
Original language | English |
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Pages (from-to) | 237-241 |
Number of pages | 5 |
Journal | Gynecologic and Obstetric Investigation |
Volume | 50 |
Issue number | 4 |
DOIs | |
Publication status | Published - 2000 Jan 1 |
Keywords
- Intrauterine growth retardation
- SHOX
- Turner's syndrome
- X chromosome
ASJC Scopus subject areas
- Reproductive Medicine
- Obstetrics and Gynaecology