一名45,X/46,Xr(X)/46,XX特纳嵌合体患者的两次妊娠。病例报告。

Two pregnancies in a 45,X/46,Xr(X)/46,XX Turner mosaic patient. A case report.

作者信息

Taga M, Minaguchi H, Saotome K

机构信息

Department of Obstetrics and gynecology, Yokohama City University School of Medicine, Japan.

出版信息

Gynecol Obstet Invest. 1996;42(3):206-8. doi: 10.1159/000291958.

DOI:10.1159/000291958

PMID:8938476

Abstract

Turner's syndrome associated with an X ring chromosome, r (X), is rare and there has been no report on pregnancy in Turner's syndrome with 45,X/46,Xr (X)/46,XX mosaicism. A patient with this karyotype who lacked the clinical manifestation of characteristic phenotype of Turner's syndrome except for short stature had two pregnancies. This is the first case of successful pregnancy in patient with X,Xr(X),XX mosaic Turner's syndrome.

摘要

与X环状染色体r(X)相关的特纳综合征很罕见，目前尚无关于45,X/46,Xr(X)/46,XX嵌合型特纳综合征患者妊娠的报道。一名具有这种核型的患者，除身材矮小外，缺乏特纳综合征特征性表型的临床表现，她有两次妊娠。这是首例X,Xr(X),XX嵌合型特纳综合征患者成功妊娠的病例。