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Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes.

作者信息

Vorsanova S G, Yurov Y B, Kurbatov M B, Kazantzeva L Z

机构信息

Institute of Pediatrics and Children's Surgery, MH of the USSR, Moscow.

出版信息

Hum Genet. 1990 Dec;86(2):173-4. doi: 10.1007/BF00197700.

DOI:10.1007/BF00197700
PMID:2265830
Abstract

The authors report a case of a balanced 1;17 translocation with breakpoints located in the secondary constriction of chromosome 1. This translocation is associated with pathological symptoms similar to those observed following a proximal deletion of 1q. We request contact with colleques who have observed similar, or related, cases of translocation with breakpoints in heterochromatic regions of human chromosomes.

摘要

相似文献

1
Translocation t(1;17)(q12;q25) with a clinical picture like of a proximal deletion of 1q: identification by in situ hybridization with chromosome 1-specific satellite DNA probes.
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2
Determination of the breakpoints of 1;7 translocations in myelodysplastic syndrome by in situ hybridization using chromosome-specific alpha satellite DNA from human chromosomes 1 and 7.使用来自人类1号和7号染色体的染色体特异性α卫星DNA,通过原位杂交确定骨髓增生异常综合征中1;7易位的断点。
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Breakpoints in Robertsonian translocations are localized to satellite III DNA by fluorescence in situ hybridization.通过荧光原位杂交技术,罗伯逊易位的断点定位于卫星III DNA。
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Chromosome derived from translocation(1;17) retains alphoid sequences of both chromosomes involved.源自易位(1;17)的染色体保留了所涉及的两条染色体的α卫星序列。
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Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with alpha-satellite DNA probes.使用α-卫星DNA探针荧光原位杂交技术鉴定全臂易位中着丝粒的起源
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Fluorescence in situ hybridization reveals a break in the alpha-satellite DNA of chromosome 1 in a family with a balanced whole-arm translocation.荧光原位杂交显示,在一个患有平衡全臂易位的家族中,1号染色体的α卫星DNA出现断裂。
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[Investigation of chromosomes in varieties and translocation lines of pea Pisum sativum L. by FISH, Ag-NOR, and differential DAPI staining].[利用荧光原位杂交、银染核仁组织区及DAPI差异染色技术对豌豆(Pisum sativum L.)品种及易位系染色体的研究]
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Unbalanced 1q whole-arm translocation resulting in der(14)t(1;14)(q11-12;p11) in myelodysplastic syndrome.骨髓增生异常综合征中导致der(14)t(1;14)(q11-12;p11)的1号染色体整条臂不平衡易位。
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Identification of a whole-arm translocation by in situ hybridization with directly fluorochrome-labeled probes in a myelodysplastic syndrome.
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High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: rapid chromosome identification by directly fluorescently labeled alphoid DNA probes.使用花青和荧光素染料的高分辨率多色荧光原位杂交:通过直接荧光标记的α卫星DNA探针快速鉴定染色体
Hum Genet. 1996 Mar;97(3):390-8. doi: 10.1007/BF02185780.
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Analysis of pericentromeric chromosome 21 specific YAC clones by FISH: identification of new markers for molecular-cytogenetic application.

本文引用的文献

1
18p- syndrome: an unusual case and diagnosis by in situ hybridization with chromosome 18-specific alphoid DNA sequence.18号染色体短臂缺失综合征:一个罕见病例及通过与18号染色体特异性α卫星DNA序列进行原位杂交的诊断
Hum Genet. 1986 Feb;72(2):185-7. doi: 10.1007/BF00283945.
2
Cloning of human satellite III DNA: different components are on different chromosomes.人类卫星III DNA的克隆:不同组分位于不同染色体上。
Nucleic Acids Res. 1979 Jul 25;6(10):3177-97. doi: 10.1093/nar/6.10.3177.
利用荧光原位杂交技术分析21号染色体着丝粒周围区域特异性酵母人工染色体克隆:鉴定用于分子细胞遗传学应用的新标记
Hum Genet. 1995 Mar;95(3):287-92. doi: 10.1007/BF00225195.