Analysis of a case of balanced chromosome translocation and phenotypic abnormality by fluorescence in situ hybridization

被引：0
|
作者：
Guanshan, Z. [1 ]
Bartsch, O. [1 ]
Mobin, W. [1 ]
Gillessen-Kaesbach, G. [1 ]
Passarge, E. [1 ]
机构：
[1] Changhai Hospital, Second Military Medical University, Shanghai 200433, China
来源：
Chinese Journal of Medical Genetics | 2001年 / 18卷 / 02期
关键词：
Chromosomes; -; Diseases; Fluorescence; Genes; Yeast;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Objective: To delineate the chromosome structural aberration in a case of chromosome translocation by fluorescence in situ hybridization (FISH) technique and precisely identify the breakpoints. Methods: The whole chromosome point 5(wcp5) and locus-specific probes derived from yeast artificial chromosomes (YACs) mapping the nearby region of breakpoints were used to delineate the translocation t(5;10) found by high resolution G-banding examination in a case with congenital abnormality. Results: A balanced translocation was confirmed and the breakpoints were located in the 1. 5 Mb area on chromosome 5 and within the approximately 3 Mb interval on chromosome 10. Conclusion: The phenotypic abnormality might result from the disruption of disease-associated gene(s) or microrearrangement(s) on the site of breakpoint(s).
引用
收藏
页码：96 / 99
相关论文
共 50 条
  • [11] Analysis using dual-colour fluorescence in situ hybridization of meiotic chromosome segregation in male mice heterozygous for a reciprocal translocation
    Tease, C
    [J]. CHROMOSOME RESEARCH, 1996, 4 (01) : 61 - 68
  • [12] Loss of the X chromosome as a newly identified recurring sole cytogenetic abnormality associated with myelodysplastic syndromes: 5 case reports, fluorescence in situ hybridization analysis and a review.
    Abruzzese, E
    Rao, PN
    Cruz, J
    Powell, B
    Pettenati, MJ
    [J]. BLOOD, 1995, 86 (10) : 3145 - 3145
  • [13] High resolution chromosome analysis and in situ hybridization on amniotic fluid for diagnosis of a cryptic translocation
    Guichet, A
    Briault, S
    Moraine, C
    [J]. PRENATAL DIAGNOSIS, 1998, 18 (04) : 399 - 403
  • [14] Fluorescence in situ hybridization analysis of sex-chromosome mosaicism in azoospermic men
    Okada, H
    Dobashi, M
    Yamazaki, T
    Fujisawa, M
    Arakawa, S
    Kamidono, S
    [J]. JOURNAL OF ANDROLOGY, 2001, 22 (06): : 970 - 972
  • [15] Analysis of chromosome aneuploidy in breast carcinoma progression by using fluorescence in situ hybridization
    Mendelin, J
    Grayson, M
    Wallis, T
    Visscher, DW
    [J]. LABORATORY INVESTIGATION, 1999, 79 (04) : 387 - 393
  • [16] CHROMOSOME ANALYSIS OF NON-HODGKINS-LYMPHOMAS BY FLUORESCENCE IN-SITU HYBRIDIZATION
    HAMMOND, DW
    HANCOCK, BW
    GOYNS, MH
    [J]. ANNALS OF ONCOLOGY, 1994, 5 : S51 - S54
  • [17] Fluorescence In Situ Hybridization on Chromosome Spread of Pinus tabulaeformis
    Shibata, Fukashi
    Matsusaki, Yukari
    Hizume, Masahiro
    [J]. CYTOLOGIA, 2017, 82 (02) : 99 - 99
  • [18] Fluorescence in situ hybridization of bacterial artificial chromosome in cotton
    Wang Kai
    Zhang Yan-Jie
    Guan Bing
    Guo Wang-Zhen
    Zhang Tian-Zhen
    [J]. PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS, 2007, 34 (11) : 1216 - 1222
  • [19] Multiplex-fluorescence in situ hybridization for chromosome karyotyping
    Jochen B Geigl
    Sabine Uhrig
    Michael R Speicher
    [J]. Nature Protocols, 2006, 1 : 1172 - 1184
  • [20] Multiplex-fluorescence in situ hybridization for chromosome karyotyping
    Geigl, Jochen B.
    Uhrig, Sabine
    Speicher, Michael R.
    [J]. NATURE PROTOCOLS, 2006, 1 (03) : 1172 - 1184
12345