联合使用分子细胞遗传学技术检测微小染色体易位

[Combined use of molecular cytogenetic techniques to detect a small chromosomal translocation].

作者信息

Xie Ying-jun, Chen Bao-jiang, Wu Jian-zhu, Chen Zheng, Lin Shao-bin, Fang Qun

机构信息

Department of Obstetrics and Gynecology, Sun Yat-sen University, Guangzhou, Guangdong, People's Republic of China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Oct;28(5):568-71. doi: 10.3760/cma.j.issn.1003-9406.2011.05.022.

DOI:10.3760/cma.j.issn.1003-9406.2011.05.022

PMID:21983737

Abstract

OBJECTIVE

Comprehensive use of molecular cytogenetic techniques for the detection of 1 case of small chromosome translocation.

METHODS

Following conventional chromosome preparation, G-banding karyotype analysis, spectral karyotyping (SKY), whole chromosome painting, two-color fluorescence in situ hybridization (FISH) and subtelomeric probe FISH were performed.

RESULTS

G-banded karyotype was 46, XX, ?(22q11.3), SKY karyotype analysis was 46, XX, der (4)t(4;6) and found no abnormalities on chromosome 22, staining signal was not found with any abnormalities on chromosome 6. Two-color FISH indicated a chromosomal translocation segment of 22q13.3 to one end of the short arm of chromosome 4. Subtelomeric FISH probe showed the end of the long arm of chromosome 22 and the end of the short arm of chromosome 4 reciprocal translocation. High resolution G-banding and FISH result indicated 46, XX, t(4;22)(p15.3;q13.2).

CONCLUSION

The testing of small chromosomal translocation should be combined with clinical information and integrated use of molecular cytogenetic techniques to improve the accuracy of diagnosis of chromosomal diseases.

摘要

目的

综合运用分子细胞遗传学技术检测1例小染色体易位。

方法

常规制备染色体后，进行G显带核型分析、光谱核型分析（SKY）、全染色体涂染、双色荧光原位杂交（FISH）及亚端粒探针FISH。

结果

G显带核型为46,XX,?(22q11.3)，SKY核型分析为46,XX,der(4)t(4;6)，22号染色体未见异常，6号染色体未见任何异常染色信号。双色FISH显示22q13.3染色体易位片段至4号染色体短臂一端。亚端粒FISH探针显示22号染色体长臂末端与4号染色体短臂末端相互易位。高分辨率G显带及FISH结果显示46,XX,t(4;22)(p15.3;q13.2)。