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45,XO特纳综合征,在一名有两次妊娠的患者中未发现嵌合体证据。

45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies.

作者信息

Philip J, Sele V

出版信息

Acta Obstet Gynecol Scand. 1976;55(3):283-6. doi: 10.3109/00016347609156930.

Abstract

A case of Turner's syndrome (45,XO) with two pregnancies is reported. There was no evidence of mosaicism after chromosomal investigation of 5 different tissues (2 ovaries, blood, skin, uterus). Pregnancy occurred in both cases after withdrawal of substitutional hormone therapy. The first pregnancy ended with abortion of a macerated hydrocephalic female fetus. Chromosome studies could not be carried out. The second pregnancy ended with delivery by caesarian section of a normal boy (46,XY). Prenatal chromosome analysis was not carried out for ethical reasons.

摘要

报告了一例特纳综合征(45,XO)患者两次怀孕的病例。对5种不同组织(2个卵巢、血液、皮肤、子宫)进行染色体检查后,未发现嵌合体证据。两例怀孕均在替代激素治疗停药后发生。第一次怀孕以一个浸软的脑积水女胎流产告终。未能进行染色体研究。第二次怀孕以剖宫产分娩出一个正常男孩(46,XY)告终。出于伦理原因,未进行产前染色体分析。

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