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组织特异性三体性——局限性胎盘嵌合体的意义

Tissue specific trisomy--the significance of confined placental mosaicism.

作者信息

Kalousek D K

机构信息

Department of Pathology, University of British Columbia, Vancouver, Canada.

出版信息

Prog Clin Biol Res. 1989;311:153-63.

PMID:2771997
Abstract

Confined placental mosaicism is tissue specific chromosomal mosaicism arising in both chromosomally normal and abnormal zygotes. Studied by first trimester chorionic villus sampling it has been reported in about 1-2% of human gestations. It is more common in the cytotrophoblast than in placental connective tissue. While intrauterine survival of some chromosomally abnormal embryos and fetuses appears to be significantly enhanced by its presence, the effect of confined placental mosaicism on chromosomally normal fetuses is variable and at present time still unpredictable.

摘要

局限性胎盘嵌合体是在染色体正常和异常的受精卵中均出现的组织特异性染色体嵌合体。通过孕早期绒毛取样研究发现,约1%-2%的人类妊娠中存在这种情况。它在细胞滋养层中比在胎盘结缔组织中更常见。虽然其存在似乎显著提高了一些染色体异常胚胎和胎儿的宫内存活率,但局限性胎盘嵌合体对染色体正常胎儿的影响是可变的,目前仍然无法预测。

相似文献

1
Tissue specific trisomy--the significance of confined placental mosaicism.组织特异性三体性——局限性胎盘嵌合体的意义
Prog Clin Biol Res. 1989;311:153-63.
2
Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization.2、3、7、8、9、16和22三体的局限性胎盘嵌合体:其发生率、可能起源及细胞谱系分隔机制
Prenat Diagn. 1996 Jun;16(6):511-24. doi: 10.1002/(SICI)1097-0223(199606)16:6<511::AID-PD904>3.0.CO;2-8.
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Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases.7号染色体三体绒毛取样嵌合体:14例病例的妊娠结局、胎盘及DNA分析
Am J Med Genet. 1996 Nov 11;65(4):348-52. doi: 10.1002/(SICI)1096-8628(19961111)65:4<348::AID-AJMG19>3.0.CO;2-U.
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Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation.母亲2号染色体单亲二体与2号染色体三体局限型胎盘嵌合体及严重宫内生长迟缓相关。
Prenat Diagn. 1996 Oct;16(10):958-62. doi: 10.1002/(SICI)1097-0223(199610)16:10<958::AID-PD971>3.0.CO;2-U.
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Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction.14三体的局限性胎盘嵌合体与母源单亲二倍体,伴中期妊娠母血清人绒毛膜促性腺激素升高及晚期妊娠胎儿生长受限
Prenat Diagn. 2001 May;21(5):395-8. doi: 10.1002/pd.75.
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[Chromosomal mosaicism in the placenta].[胎盘的染色体镶嵌现象]
Ned Tijdschr Geneeskd. 2002 Dec 21;146(51):2470-4.
7
Confined placental mosaicism and intrauterine development.局限性胎盘嵌合体与宫内发育
Pediatr Pathol. 1990;10(1-2):69-77. doi: 10.3109/15513819009067097.
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Chromosomal mosaicism of trisomy 7 restricted to chorionic villi.仅限于绒毛膜绒毛的7号染色体三体性嵌合体。
Am J Med Genet. 1986 Sep;25(1):161-2. doi: 10.1002/ajmg.1320250118.
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A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9.一例与9号染色体三体局限胎盘嵌合体相关的母体9号染色体单亲二倍体病例。
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Placental mosaicism is associated with unexplained second-trimester elevation of MShCG levels, but not with elevation of MSAFP levels.胎盘嵌合体与孕中期无法解释的人绒毛膜促性腺激素(MShCG)水平升高有关,但与甲胎蛋白(MSAFP)水平升高无关。
Prenat Diagn. 1996 Sep;16(9):845-51. doi: 10.1002/(SICI)1097-0223(199609)16:9<845::AID-PD958>3.0.CO;2-0.

引用本文的文献

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Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease.综述:母血中游离胎儿DNA作为胎盘健康与疾病的指标
Placenta. 2014 Feb;35 Suppl(Suppl):S64-8. doi: 10.1016/j.placenta.2013.11.014. Epub 2013 Dec 1.
2
Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF.通过体外受精受孕的一名婴儿中47,XXY的母源起源以及局限性胎盘嵌合体47,XXY/48,XXY,+13
J Assist Reprod Genet. 2013 Jun;30(6):807-12. doi: 10.1007/s10815-013-0001-6. Epub 2013 Apr 27.
3
Somatic genomic variations in extra-embryonic tissues.
胚胎外组织中的体细胞基因组变异。
Curr Genomics. 2010 Sep;11(6):402-8. doi: 10.2174/138920210793175994.
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Fluorescence in situ hybridization on paraffin-embedded abortion material as a means of retrospective chromosome analysis.石蜡包埋流产组织的荧光原位杂交用于回顾性染色体分析。
Hum Genet. 1994 Nov;94(5):518-22. doi: 10.1007/BF00211018.