• 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

腹腔镜子宫切除术和双侧输卵管切除术治疗一名患有微重复综合征（20p13p12.1）和双角子宫的患者：一种未报道的关联。

Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association.

作者信息

Pachajoa Harry, Perafan Lina, Ramos Isabella, Escobar Álvaro J

机构信息

Centro de Investigaciones en Anomalías Congénitas y Enfermedades Raras (CIACER), Faculty of Health Sciences, Universidad Icesi, Cali, Colombia.

Department of Medical Genetics, Fundación Valle del Lili, Cali, Colombia.

出版信息

Int J Womens Health. 2020 Aug 25;12:675-679. doi: 10.2147/IJWH.S253885. eCollection 2020.

DOI:10.2147/IJWH.S253885
PMID:32904596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7457575/
Abstract

Trisomy 20p is a chromosomal anomaly resulting from whole or partial duplication of the short arm of chromosome 20. It is a rarely reported syndrome and it is estimated that there are only a few cases of this condition worldwide, which hampers the phenotypic characterization of this entity. Conversely, müllerian anomalies include a group of congenital malformations of the uterus, vagina, cervix, and fallopian tubes resulting from alterations in the embryological development of the müllerian ducts. We report a case of pure trisomy 20p diagnosed using array comparative genomic hybridization (CGH) accompanied by a müllerian anomaly in a female patient with abnormal growth pattern, round face, coarse hair, broad nose, long palpebral fissure, epicanthus, and megaureter.

摘要

20号染色体短臂三体是一种由20号染色体短臂全部或部分重复导致的染色体异常。这是一种鲜有报道的综合征，据估计全球仅有少数该病症的病例，这妨碍了对该病症的表型特征描述。相反，苗勒管异常包括一组因苗勒管胚胎发育改变导致的子宫、阴道、宫颈和输卵管先天性畸形。我们报告了一例通过阵列比较基因组杂交（CGH）诊断出的单纯20号染色体短臂三体病例，该病例伴有苗勒管异常，患者为一名女性，具有生长模式异常、圆脸、毛发粗糙、宽鼻、睑裂长、内眦赘皮和巨输尿管等症状。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/1402709440ac/IJWH-12-675-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/91e8055c1c92/IJWH-12-675-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/f5bd6493a12d/IJWH-12-675-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/1402709440ac/IJWH-12-675-g0005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/91e8055c1c92/IJWH-12-675-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/f5bd6493a12d/IJWH-12-675-g0004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0696/7457575/1402709440ac/IJWH-12-675-g0005.jpg

相似文献

1
Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association.腹腔镜子宫切除术和双侧输卵管切除术治疗一名患有微重复综合征（20p13p12.1）和双角子宫的患者：一种未报道的关联。
Int J Womens Health. 2020 Aug 25;12:675-679. doi: 10.2147/IJWH.S253885. eCollection 2020.
2
De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.新发 20p 三体性综合征的特征：一个新病例的报告和文献复习。
Gene. 2013 Jul 25;524(2):368-72. doi: 10.1016/j.gene.2013.04.033. Epub 2013 Apr 21.
3
Müllerian anomalies "without a classification": from the didelphys-unicollis uterus to the bicervical uterus with or without septate vagina.“未分类”的苗勒管异常：从双子宫单宫颈到有或无纵隔阴道的双宫颈子宫。
Fertil Steril. 2009 Jun;91(6):2369-75. doi: 10.1016/j.fertnstert.2008.01.079. Epub 2008 Mar 25.
4
Laparoscopic hemi-hysterectomy in treatment of a didelphic uterus with a hypoplastic cervix and obstructed hemivagina.腹腔镜半子宫切除术治疗双子宫合并宫颈发育不全及半阴道梗阻
Hum Reprod. 1999 Jul;14(7):1741-3. doi: 10.1093/humrep/14.7.1741.
5
Laparoscopic hemi-hysterectomy in treatment of a didelphic uterus with a hypoplastic cervix and obstructed hemi-vagina.腹腔镜半子宫切除术治疗双子宫伴宫颈发育不全及半阴道梗阻
Tunis Med. 2008 Nov;86(11):1008-10.
6
Prenatal diagnosis of proximal partial trisomy 1q confirmed by comparative genomic hybridization array: molecular cytogenetic analysis, fetal pathology and review of the literature.通过比较基因组杂交阵列确诊的近端1q部分三体的产前诊断：分子细胞遗传学分析、胎儿病理学及文献复习
Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):284-93. doi: 10.1002/bdra.23213. Epub 2014 Feb 12.
7
Double cervix: clarifying a diagnostic dilemma.双宫颈：澄清诊断难题。
Am J Obstet Gynecol. 2014 Jul;211(1):26.e1-5. doi: 10.1016/j.ajog.2014.03.014. Epub 2014 Mar 11.
8
Double vagina and cervix communicating bilaterally with a single uterine cavity: report of a case with an unusual congenital uterine malformation.双阴道、双宫颈且双侧与单一子宫腔相通：一例罕见先天性子宫畸形病例报告
J Reprod Med. 2007 Mar;52(3):238-40.
9
Prenatal Diagnosis of Trisomy 2p due to Terminal 2p Duplication including Interstitial Telomeric Sequences.因2号染色体短臂末端重复（包括间质端粒序列）导致的2号染色体短臂三体的产前诊断
Cytogenet Genome Res. 2017;153(3):117-124. doi: 10.1159/000485392. Epub 2017 Dec 22.
10
Rare Case of a 20p13 Duplication Trisomy With Craniostenosis.一例伴有颅骨狭窄的20p13重复三体罕见病例。
Cureus. 2024 Jun 8;16(6):e61949. doi: 10.7759/cureus.61949. eCollection 2024 Jun.

引用本文的文献

1
Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.短篇报告：20p13 重复的双胞胎。病例报告及全面文献复习。
Mol Genet Genomic Med. 2024 May;12(5):e2436. doi: 10.1002/mgg3.2436.

本文引用的文献

1
Pure Trisomy 20p: Report of a Novel Case of a Marker Chromosome and Literature Review.纯20号染色体短臂三体：一例标记染色体新病例报告及文献综述
Ann Lab Med. 2020 May;40(3):277-280. doi: 10.3343/alm.2020.40.3.277.
2
Müllerian Anomalies Prevalence Diagnosed by Hysteroscopy and Laparoscopy in Mexican Infertile Women: Results from a Cohort Study.宫腔镜和腹腔镜诊断的墨西哥不孕女性苗勒管异常患病率：一项队列研究的结果
Diagnostics (Basel). 2019 Oct 17;9(4):149. doi: 10.3390/diagnostics9040149.
3
Uterine Malformations: An Update of Diagnosis, Management, and Outcomes.
子宫畸形：诊断、处理与结局的最新进展。
Obstet Gynecol Surv. 2017 Jun;72(6):377-392. doi: 10.1097/OGX.0000000000000444.
4
The ESHRE/ESGE consensus on the classification of female genital tract congenital anomalies.ESHRE/ESGE 关于女性生殖道先天性畸形分类的共识。
Hum Reprod. 2013 Aug;28(8):2032-44. doi: 10.1093/humrep/det098. Epub 2013 Jun 14.
5
De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.新发 20p 三体性综合征的特征：一个新病例的报告和文献复习。
Gene. 2013 Jul 25;524(2):368-72. doi: 10.1016/j.gene.2013.04.033. Epub 2013 Apr 21.
6
Molecular cytogenetic characterization of the first reported case of inv dup del 20p compatible with a U-type exchange model.首例符合U型交换模型的inv dup del 20p病例的分子细胞遗传学特征。
Am J Med Genet A. 2009 Mar;149A(3):437-45. doi: 10.1002/ajmg.a.32640.
7
Female genital malformations and their associated abnormalities.女性生殖器畸形及其相关异常。
Fertil Steril. 2007 Feb;87(2):335-42. doi: 10.1016/j.fertnstert.2006.07.1501. Epub 2006 Nov 27.
8
Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling.因母亲臂间倒位重组导致的20号染色体短臂部分三体：绒毛取样产前诊断病例报告
Prenat Diagn. 2006 Mar;26(3):239-41. doi: 10.1002/pd.1389.
9
Distal monosomy 18p/distal trisomy 20p--a recognizable facial phenotype?18号染色体短臂远端单体性/20号染色体短臂远端三体性——一种可识别的面部表型？
Am J Med Genet A. 2003 Jul 30;120A(3):429-33. doi: 10.1002/ajmg.a.20060.
10
De novo interstitial tandem duplication of chromosome 20p12.1p13.20号染色体p12.1-p13区域的新生间质串联重复
Am J Med Genet A. 2003 Feb 15;117A(1):76-9. doi: 10.1002/ajmg.a.10825.