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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.

DOI:10.3109/00016347609156930
PMID:936993
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。

相似文献

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45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies.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。
Acta Obstet Gynecol Scand. 1976;55(3):283-6. doi: 10.3109/00016347609156930.
2
Turner's syndrome with sex chromosome mosaicism.伴有性染色体镶嵌现象的特纳综合征。
Eur J Obstet Gynecol Reprod Biol. 1995 Mar;59(1):109-10. doi: 10.1016/0028-2243(94)01966-b.
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Turner's syndrome with XO/XXp- karyotype: a case report.
S Afr Med J. 1976 Sep 4;50(38):1484-6.
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Turner's syndrome--review of the literature with reference to a successful pregnancy outcome.特纳综合征——参考成功妊娠结局的文献综述
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Two pregnancies in a 45,X/46,Xr(X)/46,XX Turner mosaic patient. A case report.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。
Gynecol Obstet Invest. 1996;42(3):206-8. doi: 10.1159/000291958.
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Non-fluorescent Y chromosome in a male infant with Turner's symptoms and XO/XY mosaicism.一名患有特纳氏症状及XO/XY嵌合体的男婴的非荧光Y染色体。
Clin Genet. 1977 Mar;11(3):235-40. doi: 10.1111/j.1399-0004.1977.tb01306.x.
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Ultrasonography of Turner's syndrome.特纳综合征的超声检查
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[Gonad function of women with homogenous karyotype XO or with mosaic form. Five case histories of fertile women (author's transl)].[核型为XO均质型或嵌合型女性的性腺功能。5例可育女性的病例报告(作者译)]
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A case report of Turner's syndrome with ring X chromosome.
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Y-chromosome identification by PCR and gonadal histopathology in Turner's syndrome without overt Y-mosaicism.通过聚合酶链反应(PCR)和性腺组织病理学对无明显Y染色体嵌合的特纳综合征患者进行Y染色体鉴定。
Clin Endocrinol (Oxf). 1999 Jan;50(1):19-26. doi: 10.1046/j.1365-2265.1999.00607.x.

引用本文的文献

1
Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.特纳综合征患者自发性妊娠和辅助妊娠的结局:美国国立卫生研究院的经验。
Fertil Steril. 2011 Jun;95(7):2251-6. doi: 10.1016/j.fertnstert.2011.03.085. Epub 2011 Apr 15.
2
Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.性染色体畸变与身高:推导成年身高决定中的主要影响因素。
Hum Genet. 1993 Jul;91(6):551-62. doi: 10.1007/BF00205079.
3
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.
特纳综合征与女性性染色体畸变:推导临床特征发展中涉及的主要因素。
Hum Genet. 1995 Jun;95(6):607-29. doi: 10.1007/BF00209476.
4
X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.一名可育女性及其47,XXX不育女儿中存在断点位于Xq22的X-常染色体易位。
Hum Genet. 1981;59(4):290-6. doi: 10.1007/BF00295460.
5
Partial Turner's syndrome in four girls with Xq duplication and Xp deficiency.四名患有Xq重复和Xp缺失的女孩的部分特纳综合征。
Hum Genet. 1982;61(1):12-7. doi: 10.1007/BF00291323.
6
Fertility in 47,XXX and 45,X patients.47,XXX和45,X患者的生育能力。
J Med Genet. 1978 Apr;15(2):132-5. doi: 10.1136/jmg.15.2.132.
7
An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.一种罕见的舍雷舍夫斯基-特纳综合征表型变异型。
Hum Genet. 1979;52(3):275-9. doi: 10.1007/BF00278677.