特纳综合征患者中宫内生长迟缓与X染色体短臂末端片段单体性的关联。

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.

作者信息

Yaegashi N, Uehara S, Ogawa H, Hanew K, Igarashi A, Okamura K, Yajima A

机构信息

Department of Obstetrics and Gynecology, Tohoku University School of Medicine, Sendai, Japan.

出版信息

Gynecol Obstet Invest. 2000;50(4):237-41. doi: 10.1159/000010323.

DOI:10.1159/000010323

PMID:11093045

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.

摘要

身材矮小可能是宫内生长迟缓（IUGR）的结果，是特纳综合征的一个特征。然而，导致宫内生长迟缓的基因座尚未得到充分研究。我们回顾了74例特纳综合征患者的出生记录：20例为单纯X单体型，44例为X染色体嵌合体，10例为X结构异常。宫内生长迟缓的总体发生率为39.2%（74例患者中的29例）。SHOX基因位于X染色体短臂的末端片段。在39例缺失两个SHOX基因拷贝的患者中，宫内生长迟缓的发生率为46.2%（39例患者中的18例）。在14例有两个SHOX基因拷贝的患者中，宫内生长迟缓的发生率显著较低，为7.1%（14例患者中的1例）。我们的结果表明，SHOX基因影响特纳综合征患者的子宫内生长。