• 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

一名患有特纳综合征女孩复杂核型中一条小环状染色体的细胞遗传学和分子特征分析

Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.

作者信息

Guttenbach M, Köhler J, Schmid M

机构信息

Institut für Humangenetik der Universität, Würzburg, Federal Republic of Germany.

出版信息

Hum Genet. 1991 Oct;87(6):680-4. doi: 10.1007/BF00201725.

DOI:10.1007/BF00201725
PMID:1937469
Abstract

Blood samples of an 8-year-old girl with Turner syndrome were examined using cytogenetic and molecular methods. Chromosomal analyses revealed a mosaic karyotype consisting of 25% 47,X,der(X), +r(X) and 75% 46,X,der(X) cells. Southern blot hybridizations with Y-specific DNA probes excluded a Y chromosomal origin of the small ring chromosome. In situ hybridization using DNA probe pXBR showed it to be X-derived. Examination of C-, Q-, and R-banding patterns indicated that the der(X) chromosome probably arose by a translocation event.

摘要

运用细胞遗传学和分子学方法对一名患有特纳综合征的8岁女孩的血样进行了检测。染色体分析显示其核型为嵌合体，由25%的47,X,der(X), +r(X)细胞和75%的46,X,der(X)细胞组成。用Y特异性DNA探针进行的Southern印迹杂交排除了小环状染色体的Y染色体起源。使用DNA探针pXBR进行的原位杂交表明它源自X染色体。对C带、Q带和R带模式的检测表明，der(X)染色体可能是由一次易位事件产生的。

相似文献

1
Cytogenetic and molecular characterization of a small ring chromosome in the complex karyotype of a girl with Turner syndrome.一名患有特纳综合征女孩复杂核型中一条小环状染色体的细胞遗传学和分子特征分析
Hum Genet. 1991 Oct;87(6):680-4. doi: 10.1007/BF00201725.
2
A mosaic 45,X/46,X,r(?) karyotype investigated with X and Y centromere-specific probes using a non-autoradiographic in situ hybridization technique.采用非放射自显影原位杂交技术，用X和Y着丝粒特异性探针研究了一种45,X/46,X,r(?)嵌合核型。
Hum Genet. 1988 Dec;81(1):81-4. doi: 10.1007/BF00283735.
3
An investigation of ring and dicentric chromosomes found in three Turner's syndrome patients using DNA analysis and in situ hybridisation with X and Y chromosome specific probes.利用DNA分析以及与X和Y染色体特异性探针的原位杂交技术，对三名特纳综合征患者中发现的环状染色体和双着丝粒染色体进行了研究。
J Med Genet. 1991 Jan;28(1):6-9. doi: 10.1136/jmg.28.1.6.
4
Identification of the origin of ring/marker chromosomes in patients with Ullrich-Turner syndrome using X and Y specific alpha satellite DNA probes.使用X和Y特异性α卫星DNA探针鉴定乌尔里希-特纳综合征患者环状/标记染色体的起源。
Am J Med Genet. 1992 Mar 1;42(5):720-3. doi: 10.1002/ajmg.1320420519.
5
Ring Y chromosome: cytogenetic and molecular characterization.环形Y染色体：细胞遗传学和分子特征
Clin Genet. 1992 Aug;42(2):71-5. doi: 10.1111/j.1399-0004.1992.tb03142.x.
6
[Identification and characterization of marker chromosome in Turner syndrome].[特纳综合征中标记染色体的鉴定与特征分析]
Zhonghua Fu Chan Ke Za Zhi. 2007 Oct;42(10):679-82.
7
[Molecular cytogenetic study of Turner's syndrome with the 45, X/46,X,r(?) karyotype].[45,X/46,X,r(?)核型特纳综合征的分子细胞遗传学研究]
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1994 Jun;16(3):218-21.
8
[Analysis of the small supernumerary marker chromosome in Turner syndrome with 45, X/46, X, + mar karyotype].[45,X/46,X,+mar核型特纳综合征中额外小标记染色体的分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Aug;26(4):461-4.
9
Novel karyotype in the Ullrich-Turner syndrome--45,X/46,X,r(X)/46,X, dic(X)--investigated with fluorescence in situ hybridization.
Am J Med Genet. 1994 Apr 15;50(3):251-4. doi: 10.1002/ajmg.1320500308.
10
Paternally derived der(7)t(Y;7)(p11.1 approximately 11.2;p22.3)dn in a mosaic case with Turner syndrome.一名患有特纳综合征的嵌合病例中源自父方的der(7)t(Y;7)(p11.1约11.2;p22.3)dn
Eur J Med Genet. 2009 Jul-Aug;52(4):207-10. doi: 10.1016/j.ejmg.2009.03.016. Epub 2009 Apr 16.

引用本文的文献

1
Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.具有复杂核型的女性中活性X染色体环状结构导致的严重表型：特征描述与重复研究
J Med Genet. 1998 Nov;35(11):932-8. doi: 10.1136/jmg.35.11.932.
2
Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X.乌尔里希-特纳综合征并非由RPS4X单倍剂量不足引起。
Hum Genet. 1996 Jan;97(1):39-44. doi: 10.1007/BF00218830.
3
Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

本文引用的文献

1
CLINICAL AND CYTOGENETICAL STUDIES IN FEMALE GONADAL DYSGENESIS AND THEIR BEARING ON THE CAUSE OF TURNER'S SYNDROME.女性性腺发育不全的临床与细胞遗传学研究及其与特纳综合征病因的关系
Cytogenetics. 1964;3:355-83. doi: 10.1159/000129827.
2
Clinical and cytogenetic aspects of X-chromosome deletions.
Clin Genet. 1982 Jan;21(1):36-52. doi: 10.1111/j.1399-0004.1982.tb02077.x.
3
Arrangement of chromatin in the nucleus.细胞核中染色质的排列。
Hum Genet. 1980 Feb;53(2):131-43. doi: 10.1007/BF00273484.
小标记X染色体缺乏X染色体失活中心：对核型/表型相关性的影响。
Am J Hum Genet. 1994 Jul;55(1):87-95.
4
Characterization of a cloned repetitive DNA sequence concentrated on the human X chromosome.一个集中于人类X染色体上的克隆重复DNA序列的特征分析。
Proc Natl Acad Sci U S A. 1982 Nov;79(21):6593-7. doi: 10.1073/pnas.79.21.6593.
5
Speech and language development in 41 children with sex chromosome anomalies.41例性染色体异常儿童的言语和语言发育情况
Pediatrics. 1983 Feb;71(2):262-7.
6
Cognitive development of unselected girls with complete and partial X monosomy.
Pediatrics. 1984 Feb;73(2):175-82.
7
"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。附录
Anal Biochem. 1984 Feb;137(1):266-7. doi: 10.1016/0003-2697(84)90381-6.
8
Isolation and characterization of a major tandem repeat family from the human X chromosome.人类X染色体上一个主要串联重复序列家族的分离与特性分析。
Nucleic Acids Res. 1983 Apr 11;11(7):2017-33. doi: 10.1093/nar/11.7.2017.
9
A direct demonstration of somatically paired heterochromatin of human chromosomes.人类染色体体细胞配对异染色质的直接证明。
Cytogenet Cell Genet. 1983;36(3):554-61. doi: 10.1159/000131972.
10
Cytogenetic findings in 89 cases of Turner's syndrome with abnormal karyotypes.89例核型异常的特纳综合征的细胞遗传学研究结果
Humangenetik. 1974;24(2):93-104. doi: 10.1007/BF00283766.