• 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

一名无颅缝早闭患儿的7号染色体短臂2区2带1亚带至末端的新发缺失

De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.

作者信息

Speleman F, Craen M, Leroy J

机构信息

Department of Medical Genetics, University Hospital Ghent, Belgium.

出版信息

J Med Genet. 1989 Aug;26(8):528-32. doi: 10.1136/jmg.26.8.528.

DOI:10.1136/jmg.26.8.528
PMID:2671374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015678/
Abstract

A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.

摘要

本文描述了一名患有7号染色体短臂（p22.1-pter）新发末端缺失的患者。面部畸形、先天性心脏缺陷和生殖器发育不全明显。没有颅缝早闭的迹象。我们的观察证实，7p22缺失不一定与颅缝早闭相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/118c/1015678/c23ff846c5cd/jmedgene00058-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/118c/1015678/c8bbf9a1f018/jmedgene00058-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/118c/1015678/c23ff846c5cd/jmedgene00058-0049-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/118c/1015678/c8bbf9a1f018/jmedgene00058-0049-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/118c/1015678/c23ff846c5cd/jmedgene00058-0049-b.jpg

相似文献

1
De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.一名无颅缝早闭患儿的7号染色体短臂2区2带1亚带至末端的新发缺失
J Med Genet. 1989 Aug;26(8):528-32. doi: 10.1136/jmg.26.8.528.
2
Chromosome 7 short arm deletion, 7p21----pter.染色体7短臂缺失，7p21----末端。
Hum Genet. 1986 Nov;74(3):323-5. doi: 10.1007/BF00282559.
3
7p deletion syndrome: an adult with mild manifestations.7号染色体短臂缺失综合征：一名表现轻微的成年人。
Am J Med Genet. 1992 Sep 1;44(1):18-23. doi: 10.1002/ajmg.1320440106.
4
[Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].[7号染色体短臂2区1带2亚带到末端部分三体综合征患者的表型在染色体上的定位]
Yi Chuan Xue Bao. 2005 Feb;32(2):124-9.
5
[7p-deletion syndrome].[7p缺失综合征]
Monatsschr Kinderheilkd. 1988 Dec;136(12):824-7.
6
Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.7号染色体短臂综合征：伴有7p2区域保留的颅缝早闭
Am J Med Genet. 1991 Sep 15;40(4):440-3. doi: 10.1002/ajmg.1320400412.
7
Interstitial deletion of 2q associated with craniosynostosis, ocular coloboma, and limb abnormalities: cytogenetic and molecular investigation.与颅缝早闭、眼裂、肢体异常相关的2号染色体间质缺失：细胞遗传学和分子学研究
Am J Med Genet. 1997 Jun 13;70(3):324-7.
8
Six cases of 7p deletion: clinical, cytogenetic, and molecular studies.
Am J Med Genet. 1994 Jul 1;51(3):270-6. doi: 10.1002/ajmg.1320510320.
9
De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome.
Ann Genet. 1986;29(1):36-8.
10
Terminal 7p deletion and 1;7 translocation associated with craniosynostosis.与颅缝早闭相关的7号染色体短臂末端缺失及1；7易位
Hum Genet. 1979 Sep;50(3):285-9. doi: 10.1007/BF00399394.

引用本文的文献

1
Structural Genome Variations Related to Craniosynostosis.与颅缝早闭相关的结构基因组变异
Mol Syndromol. 2019 Feb;10(1-2):24-39. doi: 10.1159/000490480. Epub 2018 Jul 7.
2
Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation--and review of the literature.同胞兄妹中部分 7p 三体/18p 单体和部分 18p 三体/7p 单体的心脏畸形是由于相互不平衡的错误分离所致——并复习文献。
Eur J Pediatr. 2012 Jul;171(7):1047-53. doi: 10.1007/s00431-012-1682-z.
3
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

本文引用的文献

1
Giant satellites or translocation?巨大卫星还是易位？
Cytogenet Cell Genet. 1973;12(4):209-14. doi: 10.1159/000130457.
2
Ring chromosome 7 with variable phenotypic expression.具有可变表型表达的环状染色体7
Cytogenet Cell Genet. 1973;12(1):40-8. doi: 10.1159/000130436.
3
A craniosynostosis in a boy with a del(7)(p15.3p21.3): assignment by deletion mapping of the critical segment for craniosynostosis to the mid-portion of 7p21.一名患有7号染色体短臂缺失（del(7)(p15.3p21.3)）男孩的颅缝早闭：通过缺失定位将颅缝早闭关键区段定位于7p21中部
孟德尔细胞遗传学。与孟德尔疾病相关的染色体重排。
J Med Genet. 1993 Sep;30(9):713-27. doi: 10.1136/jmg.30.9.713.
4
The breakpoint on 7p in a patient with t(6;7) and craniosynostosis is spanned by a YAC clone containing the D7S503 locus.一名患有t(6;7)和颅缝早闭症患者7号染色体短臂上的断点被一个包含D7S503基因座的酵母人工染色体（YAC）克隆覆盖。
Hum Genet. 1995 Mar;95(3):303-7. doi: 10.1007/BF00225198.
5
The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.颅缝早闭症基因的定位：塞特雷-乔岑综合征与7号染色体短臂远端连锁的证据。
J Med Genet. 1992 Oct;29(10):681-5. doi: 10.1136/jmg.29.10.681.
Hum Genet. 1985;71(2):160-2. doi: 10.1007/BF00283374.
4
De novo partial 2q3 trisomy/distal 7p22 monosomy in a malformed newborn with 7p deletion phenotype and craniosynostosis.
Ann Genet. 1985;28(1):45-8.
5
Chromosome 7 short arm deletion, 7p21----pter.染色体7短臂缺失，7p21----末端。
Hum Genet. 1986 Nov;74(3):323-5. doi: 10.1007/BF00282559.
6
De novo del(7)(pter----p21.2::p15.2----qter) and craniosynostosis. Implications for critical segment assignment in the 7p2 monosomy syndrome.
Ann Genet. 1986;29(1):36-8.
7
Mental retardation, malformation syndrome andpartial 7p monosomy [45, XX, tdic (7;15) (p21;p11)].智力发育迟缓、畸形综合征与部分7号染色体短臂单体型[45, XX, t dic(7;15)(p21;p11)]
Clin Genet. 1976 Jun;9(6):621-4.
8
A girl with karyotype 46,XX,del(7)(qter-p 15:).一名核型为46,XX,del(7)(qter-p15:)的女孩。
Humangenetik. 1975;26(2):161-5. doi: 10.1007/BF00278448.
9
Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome.7号染色体短臂缺失与颅缝早闭。一种7p综合征。
Hum Genet. 1976 Dec 29;35(1):117-23. doi: 10.1007/BF00295627.
10
Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.
Am J Med Genet. 1979;4(4):323-32. doi: 10.1002/ajmg.1320040403.