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

Nobuo Yaegashi, Shigeki Uehara, Hidenobu Ogawa, Kunihiko Hanew, Akira Igarashi, Kunihiro Okamura, Akira Yajima

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

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 languageEnglish
Pages (from-to)237-241
Number of pages5
JournalGynecologic and Obstetric Investigation
Volume50
Issue number4
DOIs
Publication statusPublished - 2000 Jan 1

Keywords

  • Intrauterine growth retardation
  • SHOX
  • Turner's syndrome
  • X chromosome

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynaecology

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