• 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

相似文献

1
Genetic characterization of two 46,XX males without gonadal ambiguities.两名无性腺发育异常的46,XX男性的遗传学特征分析。
J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):547-52. doi: 10.1007/s10815-008-9265-7. Epub 2008 Oct 30.
2
46, XX male sex reversal syndrome: a case report and review of the genetic basis.46,XX男性性反转综合征：一例报告及遗传基础综述
Andrologia. 2009 Feb;41(1):59-62. doi: 10.1111/j.1439-0272.2008.00889.x.
3
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.一名性染色体为XX的男性，其Y染色体性别决定区基因插入到了16号染色体长臂。
Fertil Steril. 2006 Aug;86(2):463.e1-5. doi: 10.1016/j.fertnstert.2005.12.062. Epub 2006 Jun 12.
4
Hidden X chromosomal mosaicism in a 46,XX male.X 染色体镶嵌现象隐匿于 46,XX 男性个体中。
Sex Dev. 2009;3(4):183-7. doi: 10.1159/000228718. Epub 2009 Sep 11.
5
SRY-negative 46,XX male with normal genitals, complete masculinization and infertility.具有正常生殖器、完全男性化和不育症的SRY阴性46,XX男性。
Mol Hum Reprod. 2006 May;12(5):341-6. doi: 10.1093/molehr/gal030. Epub 2006 Mar 23.
6
[Clinical, molecular and cytogenetic studies on 4 patients with 46, XX (SRY positive) male syndrome].4例46, XX（SRY阳性）男性综合征患者的临床、分子及细胞遗传学研究
Zhonghua Nan Ke Xue. 2007 Dec;13(12):1094-7.
7
[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].[6例因X和Y染色体短臂间易位所致46,XX男性的分子与细胞遗传学特征]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):408-12. doi: 10.3760/cma.j.issn.1003-9406.2012.04.007.
8
Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype.
Am J Med Genet. 2002 Nov 15;113(1):108-10. doi: 10.1002/ajmg.10718.
9
Molecular analysis of SRY gene in Brazilian 46,XX sex reversed patients: absence of SRY sequence in gonadal tissue.巴西46,XX性反转患者SRY基因的分子分析：性腺组织中无SRY序列
Med Sci Monit. 2001 Mar-Apr;7(2):238-41.
10
Two males with SRY-positive 46,XX testicular disorder of sex development.两名患有 SRY 阳性 46,XX 睾丸性别发育障碍的男性。
Syst Biol Reprod Med. 2013 Feb;59(1):42-7. doi: 10.3109/19396368.2012.731624. Epub 2012 Oct 30.

引用本文的文献

1
46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.46,XX 睾丸性发育障碍（DSD）：病例报告和系统评价。
Medicina (Kaunas). 2019 Jul 12;55(7):371. doi: 10.3390/medicina55070371.
2
46 XX karyotype during male fertility evaluation; case series and literature review.男性生育力评估中的46 XX核型；病例系列及文献综述
Asian J Androl. 2017 Mar-Apr;19(2):168-172. doi: 10.4103/1008-682X.181224.
3
Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.46,XX性发育障碍伴SRY阳性的临床、分子及细胞遗传学分析
BMC Urol. 2014 Aug 28;14:70. doi: 10.1186/1471-2490-14-70.
4
Clinical and molecular studies in four patients with SRY-positive 46,XX testicular disorders of sex development: implications for variable sex development and genomic rearrangements.4例SRY阳性46,XX性发育障碍患者的临床及分子研究：对性发育变异和基因组重排的意义
J Hum Genet. 2014 Oct;59(10):549-53. doi: 10.1038/jhg.2014.70. Epub 2014 Aug 7.
5
46,XX, der(15),t(Y;15)(q12;p11) karyotype in an azoospermic male.一名无精子症男性的核型为46,XX, der(15),t(Y;15)(q12;p11)
Indian J Hum Genet. 2012 May;18(2):241-5. doi: 10.4103/0971-6866.100785.
6
Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals.Y 染色体染色体间缺失导致 AMELY 阴性个体的 Y-STR 等位基因丢失。
Int J Legal Med. 2012 Sep;126(5):713-24. doi: 10.1007/s00414-012-0720-8. Epub 2012 Jun 6.

本文引用的文献

1
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.46,XX男性综合征与47,XXY克氏综合征患者相比的临床、内分泌和表观遗传学特征。
J Clin Endocrinol Metab. 2007 Sep;92(9):3458-65. doi: 10.1210/jc.2007-0447. Epub 2007 Jun 19.
2
Molecular and cytogenetic investigation of Y chromosome deletions over three generations facilitated by intracytoplasmic sperm injection.通过胞浆内单精子注射对三代人Y染色体缺失进行的分子和细胞遗传学研究。
Prenat Diagn. 2007 Aug;27(8):743-7. doi: 10.1002/pd.1772.
3
Compound genetic abnormalities in patients with cystic fibrosis transmembrane regulator gene mutation.
Fertil Steril. 2007 Jun;87(6):1468.e5-8. doi: 10.1016/j.fertnstert.2006.07.1537. Epub 2007 Jan 24.
4
Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.不育男性中囊性纤维化跨膜传导调节因子基因突变频率增加。
Fertil Steril. 2006 Jan;85(1):135-8. doi: 10.1016/j.fertnstert.2005.07.1282.
5
Variability of sexual phenotype in 46,XX(SRY+) patients: the influence of spreading X inactivation versus position effects.46,XX（SRY阳性）患者性表型的变异性：X染色体随机失活扩展与位置效应的影响
J Med Genet. 2005 May;42(5):420-7. doi: 10.1136/jmg.2004.022053.
6
Three new 46,XX male patients: a clinical, cytogenetic and molecular analysis.三名新的46,XX男性患者：临床、细胞遗传学和分子分析
J Pediatr Endocrinol Metab. 2005 Feb;18(2):197-203. doi: 10.1515/jpem.2005.18.2.197.
7
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.
Genet Med. 2004 Sep-Oct;6(5):421-5. doi: 10.1097/01.GIM.0000139507.20179.3A.
8
X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers.
Am J Med Genet A. 2003 Dec 15;123A(3):231-5. doi: 10.1002/ajmg.a.20317.
9
Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: case report.对一名通过卵胞浆内单精子注射（ICSI）出生的46,XX性早熟男婴的细胞遗传学和分子学研究：病例报告
Hum Reprod. 2003 Nov;18(11):2298-301. doi: 10.1093/humrep/deg462.
10
Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature.SRY 阳性 XX 男性性反转中的 X 染色体失活模式偏斜：一例报告并文献复习
Ann Genet. 2003 Jan-Mar;46(1):11-8. doi: 10.1016/s0003-3995(03)00011-x.

两名无性腺发育异常的46,XX男性的遗传学特征分析。

Genetic characterization of two 46,XX males without gonadal ambiguities.

作者信息

Minor Agata, Mohammed Fawziah, Farouk Alla, Hatakeyama Chiho, Johnson Karynn, Chow Victor, Ma Sai

机构信息

Department of Obstetrics and Gynaecology, University of British Columbia, Vancouver, BC, Canada.

出版信息

J Assist Reprod Genet. 2008 Nov-Dec;25(11-12):547-52. doi: 10.1007/s10815-008-9265-7. Epub 2008 Oct 30.

DOI:10.1007/s10815-008-9265-7
PMID:18972202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2593770/
Abstract

PURPOSE

To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities.

METHODS

Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus.

RESULTS

The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other.

CONCLUSIONS

We found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.

摘要

目的

评估解释Y染色体性别决定区阳性的46,XX男性表型变异的假说。我们研究了两名无性腺模糊的46,XX男性。

方法

采用细胞遗传学和分子分析来确定Y染色体物质的存在并定位易位断点。最后，使用雄激素受体基因座的甲基化检测研究X染色体失活模式。

结果

两名男性均证实存在Y染色体物质，包括Y染色体性别决定区基因。然而，患者之间易位的Y染色体物质数量不同。在患者中发现了不同的X染色体失活模式；一名患者为随机失活，另一名患者为非随机失活。

结论

我们发现表型与X染色体失活模式之间缺乏关联。我们的细胞遗传学和分子分析支持位置效应假说，该假说解释了XX男性的表型变异。