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).
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页码：96 / 99
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