• 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

患有1q41-qter染色体纯合重复的婴儿的骨髓增生异常综合征。

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.

作者信息

Morokawa Hirokazu, Kamiya Motoko, Wakui Keiko, Kobayashi Mikiko, Kurata Takashi, Matsuda Kazuyuki, Kawamura Rie, Kanno Hiroyuki, Fukushima Yoshimitsu, Nakazawa Yozo, Kosho Tomoki

机构信息

1Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan.

2Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.

出版信息

Hum Genome Var. 2018 May 21;5:6. doi: 10.1038/s41439-018-0008-8. eCollection 2018.

DOI:10.1038/s41439-018-0008-8
PMID:29796285
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5960645/
Abstract

We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q duplication. Common clinical features of the constitutional pure duplication 1q41-qter include developmental delay, craniofacial characteristics, foot malformation, hypertrichosis, and respiratory insufficiency. The association between MDS and the duplication of the genes in the 1q41-qter region remains unknown.

摘要

我们报告了一名日本女婴，她是经染色体微阵列确认的第四例患有1q41-qter染色体纯合重复的患者，也是首例在患有1q重复的患者中发展为骨髓增生异常综合征（MDS）的患者。1q41-qter染色体纯合重复的常见临床特征包括发育迟缓、颅面特征、足部畸形、多毛症和呼吸功能不全。MDS与1q41-qter区域基因重复之间的关联尚不清楚。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157d/5960645/b2e17ed9d62b/41439_2018_8_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157d/5960645/b2e17ed9d62b/41439_2018_8_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/157d/5960645/b2e17ed9d62b/41439_2018_8_Fig1_HTML.jpg

相似文献

1
Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.患有1q41-qter染色体纯合重复的婴儿的骨髓增生异常综合征。
Hum Genome Var. 2018 May 21;5:6. doi: 10.1038/s41439-018-0008-8. eCollection 2018.
2
Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: further delineation of partial trisomy 1q syndrome.两名1q41-qter部分三体综合征患者的临床和分子细胞遗传学特征：1q部分三体综合征的进一步界定
Am J Med Genet. 2001 Dec 15;104(4):312-8. doi: 10.1002/ajmg.10096.
3
Acute lymphoblastic leukemia in a patient with constitutional chromosome 1pter-p36.31 duplication and 1q43-qter deletion.
J Pediatr Hematol Oncol. 2012 Apr;34(3):217-21. doi: 10.1097/MPH.0b013e31823321e5.
4
Duplication of 1q in a child with down syndrome and myelodysplastic syndrome.
Cancer Genet Cytogenet. 2000 May;119(1):74-6. doi: 10.1016/s0165-4608(99)00209-5.
5
Constitutional t(5;7)(q11;p15) rearranged to acquire monosomy 7q and trisomy 1q in a patient with myelodysplastic syndrome transforming to acute myelocytic leukemia.一名骨髓增生异常综合征转化为急性髓细胞白血病的患者存在染色体组型t(5;7)(q11;p15)重排，伴有7号染色体长臂单体和1号染色体三体。
Cancer Genet Cytogenet. 2004 Mar;149(2):125-30. doi: 10.1016/j.cancergencyto.2003.07.006.
6
Congenital glaucoma in a child with partial 1q duplication and 9p deletion.一名患有1q部分重复和9p缺失的儿童的先天性青光眼。
Ophthalmic Paediatr Genet. 1992 Sep;13(3):165-70. doi: 10.3109/13816819209046485.
7
Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.对一名具有普拉德-威利样特征和肌张力减退的男孩进行功能性Xq27-qter双体和3p26.3缺失的染色体微阵列分析。
Eur J Med Genet. 2012 Aug-Sep;55(8-9):461-5. doi: 10.1016/j.ejmg.2012.04.011. Epub 2012 Jun 7.
8
A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.1号染色体长臂42.12区至末端同时存在重复、三倍体和单亲同二倍体的病例，支持微同源性介导的断裂诱导复制模型用于复制性重排。
Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. eCollection 2017.
9
2q34-qter duplication and 4q34.2-qter deletion in a patient with developmental delay.一名发育迟缓患者存在2q34-qter重复和4q34.2-qter缺失。
Eur J Med Genet. 2012 Mar;55(3):203-10. doi: 10.1016/j.ejmg.2012.01.012. Epub 2012 Feb 4.
10
Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.通过荧光原位杂交技术在一名患有多种畸形的男孩中检测到1q32-qter的新发重复：1q三体综合征的进一步描述
J Med Genet. 1997 Apr;34(4):309-13. doi: 10.1136/jmg.34.4.309.

本文引用的文献

1
Dynamics of clonal evolution in myelodysplastic syndromes.骨髓增生异常综合征的克隆进化动力学
Nat Genet. 2017 Feb;49(2):204-212. doi: 10.1038/ng.3742. Epub 2016 Dec 19.
2
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.2016 年版世界卫生组织髓系肿瘤和急性白血病分类。
Blood. 2016 May 19;127(20):2391-405. doi: 10.1182/blood-2016-03-643544. Epub 2016 Apr 11.
3
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.对26例1q部分重复/三倍体综合征病例的详细分析。
Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18.
4
Inhibition of poly(ADP-ribose) polymerase 1 protects against acute myeloid leukemia by suppressing the myeloproliferative leukemia virus oncogene.抑制聚（ADP-核糖）聚合酶1通过抑制骨髓增殖性白血病病毒癌基因来预防急性髓系白血病。
Oncotarget. 2015 Sep 29;6(29):27490-504. doi: 10.18632/oncotarget.4748.
5
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.基于微阵列和 FISH 的 22 例日本沃尔夫-赫希霍恩综合征患者的基因型-表型分析。
Am J Med Genet A. 2014 Mar;164A(3):597-609. doi: 10.1002/ajmg.a.36308. Epub 2013 Dec 19.
6
Specific plasma autoantibody reactivity in myelodysplastic syndromes.骨髓增生异常综合征中的特异性血浆自身抗体反应性。
Sci Rep. 2013 Nov 22;3:3311. doi: 10.1038/srep03311.
7
Landscape of genetic lesions in 944 patients with myelodysplastic syndromes.944例骨髓增生异常综合征患者的基因损伤图谱
Leukemia. 2014 Feb;28(2):241-7. doi: 10.1038/leu.2013.336. Epub 2013 Nov 13.
8
N terminus of ASPP2 binds to Ras and enhances Ras/Raf/MEK/ERK activation to promote oncogene-induced senescence.ASPP2 的 N 端与 Ras 结合，增强 Ras/Raf/MEK/ERK 的激活，促进癌基因诱导的衰老。
Proc Natl Acad Sci U S A. 2013 Jan 2;110(1):312-7. doi: 10.1073/pnas.1201514110. Epub 2012 Dec 17.
9
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.世界卫生组织（WHO）髓系肿瘤和急性白血病分类的2008年修订版：基本原理及重要变化
Blood. 2009 Jul 30;114(5):937-51. doi: 10.1182/blood-2009-03-209262. Epub 2009 Apr 8.
10
Partial trisomy 1q41 syndrome delineated by whole genomic array comparative genome hybridization.通过全基因组阵列比较基因组杂交鉴定的1q41部分三体综合征
J Korean Med Sci. 2008 Dec;23(6):1097-101. doi: 10.3346/jkms.2008.23.6.1097. Epub 2008 Dec 24.