绒毛膜绒毛三体15与出生时的普拉德-威利综合征。 - Suppr

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超能文献

Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth.

作者信息

Morichon-Delvallez N, Mussat P, Dumez Y, Vekemans M

出版信息

Prenat Diagn. 1993 Apr;13(4):307-8. doi: 10.1002/pd.1970130410.

DOI:10.1002/pd.1970130410

PMID:8506232

Abstract

摘要

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Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth.绒毛膜绒毛三体15与出生时的普拉德-威利综合征。

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Prenatal diagnosis of Prader-Willi syndrome using PW71 methylation analysis--uniparental disomy and the significance of residual trisomy 15.使用PW71甲基化分析进行普拉德-威利综合征的产前诊断——单亲二体性及残留15号三体的意义

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Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism.15号染色体三体嵌合体后单亲二体15的产前诊断。

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Fetal phenotype of Prader-Willi syndrome due to maternal disomy for chromosome 15.因母亲15号染色体单亲二倍体导致的普拉德-威利综合征胎儿表型。

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Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.由于母源二体导致父源15号染色体缺失的15号染色体三体是普拉德-威利综合征的一个病因。

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Retrospective diagnosis of trisomy 15 in formalin-fixed, paraffin-embedded placental tissue in a newborn girl with Prader-Willi syndrome.对一名患有普拉德-威利综合征的新生女婴福尔马林固定、石蜡包埋胎盘组织中15三体综合征的回顾性诊断。

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Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation.产前诊断时的13三体嵌合体：解读中的困境。

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Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader-Willi syndrome caused by trisomy rescue in the neonatal period.非侵入性产前检测提示 15 号染色体异常，经证实为新生儿期三体 rescue 导致的 Prader-Willi 综合征病例。

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Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.伴有和不伴有局限性胎盘嵌合体的单亲二体：三体合子挽救模型

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引用本文的文献

Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned.母源单亲二体 15 所致 Prader-Willi 综合征胎儿的早期诊断可能：值得吸取的教训。

Mol Med Rep. 2019 Jul;20(1):95-102. doi: 10.3892/mmr.2019.10246. Epub 2019 May 15.

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.一名患有15号染色体三体嵌合体和X染色体三体嵌合体的儿童的普拉德-威利综合征：分子分析

J Med Genet. 1997 Apr;34(4):318-22. doi: 10.1136/jmg.34.4.318.

Distribution of mosaicism in human placentae.人类胎盘嵌合体的分布

Hum Genet. 1996 May;97(5):650-4. doi: 10.1007/BF02281877.

Hum Genet. 1993 Jul;91(6):547-50. doi: 10.1007/BF00205078.

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