• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome.

作者信息

Martini G, Carillo G, Catizone F, Notarangelo A, Mingarelli R, Dallapiccola B

机构信息

Centro di Diagnosi Prenatale Partemisia, Napoli, Italy.

出版信息

Prenat Diagn. 1993 Aug;13(8):763-6. doi: 10.1002/pd.1970130811.

DOI:10.1002/pd.1970130811
PMID:8284294
Abstract

A 49,XXXXX fetus was detected in amniotic fluid cell cultures from a 39-year-old mother. On ultrasonography, growth retardation and bilateral radioulnar synostosis were found. Additional clinical manifestations were mild facial anomalies and hypoplastic ovaries depleted of oocytes. Molecular analysis showed that this aneuploidy arose by successive maternal non-disjunction.

摘要

相似文献

1
On the parental origin of the X's in a prenatally diagnosed 49,XXXXX syndrome.
Prenat Diagn. 1993 Aug;13(8):763-6. doi: 10.1002/pd.1970130811.
2
Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique.通过荧光原位杂交技术产前诊断出的患有X染色体五体（49,XXXXX）的胎儿中的丹迪-沃克畸形。
Fetal Diagn Ther. 1995 Sep-Oct;10(5):333-36. doi: 10.1159/000264254.
3
[Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester].羊水细胞染色体核型分析及孕中期染色体异常率比较
Zhonghua Fu Chan Ke Za Zhi. 2011 Sep;46(9):644-8.
4
Midtrimester diagnosis and anomalies in the dup(22q) syndrome: correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios.孕中期诊断与dup(22q)综合征中的异常：非整倍体与低母体血清甲胎蛋白及羊水过少的相关性
Am J Med Genet. 1990 May;36(1):94-6. doi: 10.1002/ajmg.1320360118.
5
Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia.产前诊断为膈疝的胎儿中的组织特异性嵌合现象。
Am J Obstet Gynecol. 1993 Oct;169(4):1017-21. doi: 10.1016/0002-9378(93)90046-l.
6
Prenatal screening for fetal aneuploidy in singleton pregnancies.单胎妊娠胎儿非整倍体的产前筛查。
J Obstet Gynaecol Can. 2011 Jul;33(7):736-750. doi: 10.1016/S1701-2163(16)34961-1.
7
Maternal cell contamination in uncultured amniotic fluid.未培养羊水样本中的母源细胞污染
Prenat Diagn. 1996 Jan;16(1):49-54. doi: 10.1002/(SICI)1097-0223(199601)16:1<49::AID-PD808>3.0.CO;2-U.
8
Amniotic-fluid cell growth and fetal aneuploidy.
Lancet. 1995 Apr 8;345(8954):924.
9
Tetrasomy 12p (Pallister-Killian syndrome): ultrasound indicators and confirmation by interphase fish.12号染色体短臂四体（帕利斯特-基利安综合征）：超声指标及间期荧光原位杂交确认
Prenat Diagn. 1994 Sep;14(9):787-92. doi: 10.1002/pd.1970140904.
10
Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses.通过快速非整倍体检测和核型分析进行产前诊断：一项关于超声在1589例孕中期羊膜穿刺术中作用的前瞻性研究。
Prenat Diagn. 2004 Oct;24(10):790-5. doi: 10.1002/pd.985.

引用本文的文献

1
Non-Invasive Prenatal Screening: The First Report of Pentasomy X Detected by Plasma Cell-Free DNA and Karyotype Analysis.无创产前筛查：通过血浆游离DNA和核型分析检测到X染色体五体的首例报告。
Diagnostics (Basel). 2022 Jun 29;12(7):1591. doi: 10.3390/diagnostics12071591.
2
A case of penta X syndrome caused by nondisjunction in maternal meiosis 1 and 2.一例因母亲减数分裂1和2期不分离导致的五X综合征病例。
Clin Case Rep. 2017 Jun 1;5(7):1136-1140. doi: 10.1002/ccr3.1004. eCollection 2017 Jul.
3
A new case of prenatally diagnosed pentasomy x: review of the literature.
一例产前诊断的X染色体五体综合征新病例：文献综述
Case Rep Obstet Gynecol. 2015;2015:935202. doi: 10.1155/2015/935202. Epub 2015 Jan 29.
4
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy.49,XXXXY五体综合征中X染色体失活的详细分析。
Mol Cytogenet. 2009 Oct 7;2:20. doi: 10.1186/1755-8166-2-20.
5
Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.母源减数分裂II期的双不分离导致一个具有48,XXX,+21核型的胎儿。
J Med Genet. 1995 Aug;32(8):650-3. doi: 10.1136/jmg.32.8.650.