• 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

两例显示嵌合等臂Y染色体的新发病例的产前基因分析及不同妊娠结局

Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.

作者信息

He Si, Xi Hui, Chen Jing, Wang Dan, Pang Jialun, Hu Jiancheng, Liu Qin, Jia Zhengjun, Wang Hua

机构信息

The prenatal diagnosis center of Hunan Province, The Maternal and Child Health Hospital of Hunan Province, 53 Xiangchun Road, Kaifu District, Changsha City, Hunan Province China.

出版信息

Mol Cytogenet. 2020 Feb 11;13:7. doi: 10.1186/s13039-020-0472-y. eCollection 2020.

DOI:10.1186/s13039-020-0472-y
PMID:32071615
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7014639/
Abstract

BACKGROUND

Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array (SNP array), fluorescence in situ hybridization (FISH), and sequence-tagged sites (STS) analysis of the Y chromosome to determine the rare molecular genetics of the two fetuses.

CASE PRESENTATION

The karyotypes of the fetuses from patients 1 and 2 were mos 45,X[92]/46,X,+idic(Y)(q11.21)[8] and mos 45,X[20]/46,X,+idic(Y)(q11.223)[80], respectively. Fetus 1 had a 7.76 Mb deletion in Yq11.222q11.23 and a 15.68 Mb duplication in Yp11.2q11.21. Fetus 2 had 21 Mb of repetitive segments in Yp11.3q11.223. Azoospermia factor (AZF) detection by STS analysis revealed a missing AZFb+c region in fetus 1 and three functional AZF regions in fetus 2. The isodicentric Y chromosome (idic (Y)) in both fetuses arose de novo. The pregnancy of patient 1 was terminated, whereas the fetus of patient 2 was delivered and is now 10 months old with normal appearance and growth.

CONCLUSION

A combination of technologies such as chromosome karyotyping, FISH, SNP arrays, and STS analysis of the Y chromosome is important in prenatal diagnosis to reduce birth defect rates and improve the health of the Chinese population.

摘要

背景

从两名孕妇羊水中采集的胎儿细胞显示存在性染色体异常。因此，我们对这两名胎儿进行了G显带染色体核型分析、单核苷酸多态性阵列（SNP阵列）、荧光原位杂交（FISH）以及Y染色体序列标签位点（STS）分析，以确定这两名胎儿罕见的分子遗传学特征。

病例报告

患者1和患者2的胎儿核型分别为mos 45,X[92]/46,X,+idic(Y)(q11.21)[8]和mos 45,X[20]/46,X,+idic(Y)(q11.223)[80]。胎儿1在Yq11.222q11.23区域有7.76 Mb的缺失，在Yp11.2q11.21区域有15.68 Mb的重复。胎儿2在Yp11.3q11.223区域有21 Mb的重复片段。通过STS分析检测无精子症因子（AZF）发现，胎儿1缺失AZFb + c区域，胎儿2有三个功能性AZF区域。两名胎儿的等臂双着丝粒Y染色体（idic(Y)）均为新发。患者1的妊娠终止，而患者2的胎儿已分娩，现10个月大，外观和生长正常。

结论

染色体核型分析、FISH、SNP阵列以及Y染色体STS分析等技术相结合，对于产前诊断降低出生缺陷率和改善中国人群健康状况具有重要意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/c2ee644b5156/13039_2020_472_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/11dbcbc6281e/13039_2020_472_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/2a40ceb56366/13039_2020_472_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/82bfec3d9cf5/13039_2020_472_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/c2ee644b5156/13039_2020_472_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/11dbcbc6281e/13039_2020_472_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/2a40ceb56366/13039_2020_472_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/82bfec3d9cf5/13039_2020_472_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb9f/7014639/c2ee644b5156/13039_2020_472_Fig4_HTML.jpg

相似文献

1
Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome.两例显示嵌合等臂Y染色体的新发病例的产前基因分析及不同妊娠结局
Mol Cytogenet. 2020 Feb 11;13:7. doi: 10.1186/s13039-020-0472-y. eCollection 2020.
2
[Cytogenetic and molecular genetic analysis of a case with mosaic marker chromosomes].[一例具有嵌合标记染色体病例的细胞遗传学和分子遗传学分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):76-80. doi: 10.3760/cma.j.issn.1003-9406.2016.01.019.
3
[Prenatal diagnosis for two fetuses carrying partial deletion of Y chromosome].[两例携带Y染色体部分缺失胎儿的产前诊断]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Feb 10;37(2):182-185. doi: 10.3760/cma.j.issn.1003-9406.2020.02.021.
4
Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes.一例新发嵌合等臂双着丝粒Y染色体病例中QF-PCR、CMA和核型分析结果的差异
Mol Cytogenet. 2019 Jan 9;12:1. doi: 10.1186/s13039-018-0413-1. eCollection 2019.
5
[Delineation of three structural Y chromosome aberrations combined molecular techniques].[三种结构Y染色体畸变的分子技术联合描绘]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):420-4. doi: 10.3760/cma.j.issn.1003-9406.2013.04.009.
6
[Prenatal diagnosis of two fetuses with de novo 46,X,psu dic(Y)/45,X mosaicism].[两例新发46,X,假双着丝粒(Y)/45,X嵌合体胎儿的产前诊断]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Sep 10;37(9):1036-1038. doi: 10.3760/cma.j.cn511374-20191015-00527.
7
Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.临床、细胞遗传学和分子特征分析表明，在无精子症和严重少精子症的不育男性中，存在等臂 Y 染色体，并预测了睾丸精子提取的结果。
J Assist Reprod Genet. 2022 Dec;39(12):2799-2810. doi: 10.1007/s10815-022-02632-8. Epub 2022 Oct 17.
8
[Genetic analysis of a fetus with with 45,X/46,X,idic(Y)(q11.2) mosaicism].[对一名具有45,X/46,X,idic(Y)(q11.2)嵌合体的胎儿进行的基因分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Aug 10;41(8):897-902. doi: 10.3760/cma.j.cn511374-20230807-00042.
9
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function.AZFb + c末端缺失中的假常染色体异常与Yp等臂染色体相关，并可能导致生长异常和神经精神功能异常。
Hum Reprod. 2017 Feb;32(2):465-475. doi: 10.1093/humrep/dew333. Epub 2017 Jan 5.
10
Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.Y染色体等臂染色体胎儿的临床、分子细胞遗传学特征及妊娠结局
Mol Cytogenet. 2022 Aug 4;15(1):32. doi: 10.1186/s13039-022-00611-3.

引用本文的文献

1
The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.染色体嵌合现象对产前诊断和遗传咨询的影响——一篇叙述性综述
J Pers Med. 2024 Jul 21;14(7):774. doi: 10.3390/jpm14070774.
2
Systematic analysis and evaluation of chromosome aberrations in major birth defects associated with infertility.与不孕症相关的主要出生缺陷中染色体畸变的系统分析与评估
Intractable Rare Dis Res. 2024 Feb;13(1):29-35. doi: 10.5582/irdr.2023.01100.
3
Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.

本文引用的文献

1
Application of molecular cytogenetic techniques to characterize the aberrant Y chromosome arising de novo in a male fetus with mosaic 45,X and solve the discrepancy between karyotyping, chromosome microarray, and multiplex ligation dependent probe amplification.应用分子细胞遗传学技术来描述新发生的 45,X 和嵌合型男性胎儿中异常的 Y 染色体，并解决核型分析、染色体微阵列分析和多重连接依赖探针扩增技术之间的差异。
J Formos Med Assoc. 2018 Nov;117(11):1027-1031. doi: 10.1016/j.jfma.2018.04.011. Epub 2018 May 9.
2
Prenatal diagnosis by chromosomal microarray analysis.染色体微阵列分析的产前诊断。
Fertil Steril. 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005.
3
Y染色体等臂染色体胎儿的临床、分子细胞遗传学特征及妊娠结局
Mol Cytogenet. 2022 Aug 4;15(1):32. doi: 10.1186/s13039-022-00611-3.
4
Repetitive DNA Sequences in the Human Y Chromosome and Male Infertility.人类Y染色体中的重复DNA序列与男性不育
Front Cell Dev Biol. 2022 Jul 13;10:831338. doi: 10.3389/fcell.2022.831338. eCollection 2022.
5
Analysis of copy number variations of the autosomal genome in 156 patients with azoospermia.156例无精子症患者常染色体基因组拷贝数变异分析
Transl Androl Urol. 2022 May;11(5):675-682. doi: 10.21037/tau-22-301.
Molecular‑cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review.
无精子症男性新发嵌合核型45,X/46,X,i(Yq)/46,X,idic(Yq)的分子细胞遗传学研究：病例报告及文献复习
Mol Med Rep. 2017 Sep;16(3):3433-3438. doi: 10.3892/mmr.2017.6981. Epub 2017 Jul 14.
4
Analysis of partial azoospermia factor c deletion and DAZ copy number in azoospermia and severe oligozoospermia.无精子症和严重少精子症患者中部分无精子症因子c缺失及DAZ拷贝数分析
Andrologia. 2016 Nov;48(9):890-894. doi: 10.1111/and.12527. Epub 2016 Jan 14.
5
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: state-of-the-art 2013.EAA/EMQN 分子诊断 Y 染色体微缺失最佳实践指南：2013 年最新进展。
Andrology. 2014 Jan;2(1):5-19. doi: 10.1111/j.2047-2927.2013.00173.x.
6
[Study on physique index set for Chinese children and adolescents].[中国儿童青少年体质指数设定的研究]
Zhonghua Liu Xing Bing Xue Za Zhi. 2012 May;33(5):449-54.
7
Allele-specific oligonucleotide polymerase chain reaction for the determination of Rh C/c and Rh E/e antigens in thalassaemic patients.等位基因特异性寡核苷酸聚合酶链反应在珠蛋白生成障碍性贫血患者中用于 Rh C/c 和 Rh E/e 抗原的检测。
Blood Transfus. 2011 Jul;9(3):301-5. doi: 10.2450/2011.0055-10. Epub 2011 Jan 13.
8
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31)嵌合核型中Y等臂染色体形成机制的证据。
Eur J Med Genet. 2011 Mar-Apr;54(2):161-4. doi: 10.1016/j.ejmg.2010.11.002. Epub 2010 Nov 13.
9
The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.SRY 基因突变在 45,X/46,XY 性发育障碍及变异患者性腺发育不良病因中的作用。
Horm Res Paediatr. 2011;75(1):26-31. doi: 10.1159/000316536. Epub 2010 Aug 12.
10
A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.一例因新发额外标记染色体导致的2p23-pter部分三体综合征合并18p三体病例。
Korean J Lab Med. 2010 Jun;30(3):312-7. doi: 10.3343/kjlm.2010.30.3.312.