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人类双着丝粒罗伯逊易位。17例经R、C和N显带研究。

Dicentric Robertsonian translocation in man. 17 cases studied by R,C, and N banding.

作者信息

Mattei M G, Mattei J F, Ayme S, Giraud F

出版信息

Hum Genet. 1979;50(1):33-8. doi: 10.1007/BF00295586.

DOI:10.1007/BF00295586
PMID:468258
Abstract

The authors studied 17 cases of Robertsonian translocation. In all cases but one C banding showed that a dicentric translocation was involved. Silver staining demonstrated the presence of an NOR between the two centromeres in only one case.

摘要

作者研究了17例罗伯逊易位病例。除1例以外，所有病例的C带分析均显示涉及双着丝粒易位。银染仅在1例病例中显示两个着丝粒之间存在核仁组织区。

相似文献

1
Dicentric Robertsonian translocation in man. 17 cases studied by R,C, and N banding.人类双着丝粒罗伯逊易位。17例经R、C和N显带研究。
Hum Genet. 1979;50(1):33-8. doi: 10.1007/BF00295586.
2
Kinetochore development in two dicentric chromosomes in man. A light and electron microscopic study.人类两条双着丝粒染色体的着丝粒发育。光镜和电镜研究。
Hum Genet. 1989 May;82(2):137-41. doi: 10.1007/BF00284046.
3
Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.在功能性双着丝粒人类罗伯逊易位中，染色体稳定性通过短的着丝粒间距离得以维持。
Chromosome Res. 1998 Feb;6(2):115-22. doi: 10.1023/a:1009286929145.
4
The loss of centromeric heterochromatin from an inactivated centromere of a dicentric chromosome.双着丝粒染色体失活着丝粒的着丝粒异染色质丢失。
Jinrui Idengaku Zasshi. 1986 Mar;31(1):21-6. doi: 10.1007/BF01876798.
5
Inheritance of the Robertsonian translocation (1/21) in the Holstein-Friesian cattle. I. Chromosome analysis.
J Vet Med Sci. 1991 Feb;53(1):113-6. doi: 10.1292/jvms.53.113.
6
Rapid identification of chromosomes carrying silver-stained nucleolus-organizing regions: application to case of 21/21 Robertsonian translocation.携带银染核仁组织区染色体的快速鉴定：应用于21/21罗伯逊易位病例
Hum Genet. 1978 Oct 31;44(2):173-80. doi: 10.1007/BF00295410.
7
Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy.罗伯逊易位中着丝粒活性的分析：对功能性近端着丝粒等级制度的影响。
Chromosoma. 1994 Dec;103(7):459-67. doi: 10.1007/BF00337384.
8
Deletion of the centromere as a mechanism for achieving stability of a dicentric chromosome.着丝粒缺失作为一种实现双着丝粒染色体稳定性的机制。
Cytogenet Cell Genet. 1986;42(3):119-22. doi: 10.1159/000132263.
9
Identification of centromeric antigens in dicentric Robertsonian translocations: CENP-C and CENP-E are necessary components of functional centromeres.双着丝粒罗伯逊易位中着丝粒抗原的鉴定：CENP-C和CENP-E是功能性着丝粒的必要组成部分。
Hum Mol Genet. 1995 Dec;4(12):2189-97. doi: 10.1093/hmg/4.12.2189.
10
A new Robertsonian translocation in cattle, rob(15;25).
Cytogenet Cell Genet. 1992;59(4):280-3. doi: 10.1159/000133269.

引用本文的文献

1
Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.缩小最常见罗伯逊易位中区域断点的定位范围。
Chromosome Res. 2014 Dec;22(4):517-32. doi: 10.1007/s10577-014-9439-3. Epub 2014 Sep 2.
2
Chromosome stability is maintained by short intercentromeric distance in functionally dicentric human Robertsonian translocations.在功能性双着丝粒人类罗伯逊易位中，染色体稳定性通过短的着丝粒间距离得以维持。
Chromosome Res. 1998 Feb;6(2):115-22. doi: 10.1023/a:1009286929145.
3
Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints.

本文引用的文献

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ABSENCE OF RIBOSOMAL RNA SYNTHESIS IN THE ANUCLEOLATE MUTANT OF XENOPUS LAEVIS.非洲爪蟾无核仁突变体中核糖体RNA合成的缺失
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Analysis of human metaphase chromosome set by aid of DNA-binding fluorescent agents.借助DNA结合荧光剂对人类中期染色体组进行分析。
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Polymorphism of human constitutive heterochromatin.人类组成型异染色质的多态性
通过荧光原位杂交技术对17例罗伯逊易位rob(13q14q)进行分子细胞遗传学特征分析，缩小包含断点的区域。
Am J Hum Genet. 1994 Nov;55(5):960-7.
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Analysis of centromeric activity in Robertsonian translocations: implications for a functional acrocentric hierarchy.罗伯逊易位中着丝粒活性的分析：对功能性近端着丝粒等级制度的影响。
Chromosoma. 1994 Dec;103(7):459-67. doi: 10.1007/BF00337384.
5
Association of ribosomal genes in the fibrillar center of the nucleolus: a factor influencing translocation and nondisjunction in the human meiotic oocyte.核仁纤维中心核糖体基因的关联：影响人类减数分裂卵母细胞易位和不分离的一个因素。
Proc Natl Acad Sci U S A. 1980 Oct;77(10):6017-21. doi: 10.1073/pnas.77.10.6017.
6
Structural basis for Robertsonian translocations in man: association of ribosomal genes in the nucleolar fibrillar center in meiotic spermatocytes and oocytes.人类罗伯逊易位的结构基础：减数分裂精子细胞和卵母细胞核仁纤维中心核糖体基因的关联。
Proc Natl Acad Sci U S A. 1983 Oct;80(19):5946-50. doi: 10.1073/pnas.80.19.5946.
7
Chromosome 15 anomalies and the Prader-Willi syndrome: cytogenetic analysis.15号染色体异常与普拉德-威利综合征：细胞遗传学分析
Hum Genet. 1984;66(4):313-34. doi: 10.1007/BF00287636.
8
Familial reciprocal translocation t(9;13)(p11;p12) investigated by silver staining and in situ hybridisation.通过银染和原位杂交研究家族性相互易位t(9;13)(p11;p12)
Hum Genet. 1981;59(4):422-8. doi: 10.1007/BF00295484.
9
Satellite DNA sequences in the human acrocentric chromosomes: information from translocations and heteromorphisms.人类近端着丝粒染色体中的卫星DNA序列：来自易位和异态性的信息。
Am J Hum Genet. 1981 Mar;33(2):243-51.
10
Advantages of silver staining in seven rearrangements of acrocentric chromosomes, excluding Robertsonian translocations.银染法在七种近端着丝粒染色体重排（不包括罗伯逊易位）中的优势。
Hum Genet. 1980;54(3):365-70. doi: 10.1007/BF00291584.
Science. 1971 Nov 12;174(4010):702-4. doi: 10.1126/science.174.4010.702.
4
Satellite association and variations in length of the nucleolar constriction of normal and variant human G chromosomes.正常和变异人类G组染色体的随体联合及核仁缢痕长度变异
Humangenetik. 1974;22(4):299-309. doi: 10.1007/BF00295489.
5
On the relationship between the frequency of association and the nucleolar constriction of individual acrocentric chromosomes.关于个体近端着丝粒染色体的联合频率与核仁缢痕之间的关系。
Humangenetik. 1974;23(4):267-77. doi: 10.1007/BF00272510.
6
Reexamination of a family with a t(13q14q) and a ring D(13) child.
Ann Genet. 1973 Sep;16(3):199-202.
7
Dicentric and monocentric Robertsonian translocations in man.人类中的双着丝粒和单着丝粒罗伯逊易位
Humangenetik. 1972;16(3):217-26. doi: 10.1007/BF00273467.
8
[A new technic of analysis of the human karyotype].[一种人类核型分析的新技术]
C R Acad Hebd Seances Acad Sci D. 1971 May 17;272(20):2638-40.
9
The possibility of latent centromeres and a proposed nomenclature system for total chromosome and whole arm translocations.潜在着丝粒的可能性以及一种针对全染色体和整条臂易位的提议命名系统。
Cytogenet Cell Genet. 1975;15(1):41-9. doi: 10.1159/000130497.
10
The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature.伴有15/15易位的普拉德-威利综合征。病例报告及文献复习
J Med Genet. 1976 Apr;13(2):152-7. doi: 10.1136/jmg.13.2.152.