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目的:探讨染色体微小易位诊断方法,为遗传咨询提供可靠依据。方法:本家系采用常规制备染色体,高分辨染色体G显带核型分析,同时利用荧光原位杂交(fluorescence in situ hybridization,FISH)和全基因组拷贝数变异检测(whole-genomen copy number variation,CNV)。结果:常规G显带和高分辨染色体核型分析结果:例1染色体核型为46,XX,?5p;例2染色体核型为46,XX;例3染色体核型为46,XY,?5p。FISH检测结果,例1核型为46,XX,t(4;5)(q34.2;p14.1)mat;例2核型为46,XX,t(4;5)(q34.2;p14.1);例3核型为46,XY,der(5)t(4;5)(q34.2;p14.1)。CNV结果:例3为4q34.2-35.2重复13Mb,5p15.33-14.1杂合缺失25 Mb。其4号染色体长臂末端重复13Mb,5号染色体短臂末端缺失25Mb。结论:对染色体微小易位综合征,在初步临床诊断的基础上,对患者进行染色体分析、高分辨检测及分子遗传学诊断,以便及早采取干预措施,降低微小易位综合征患儿出生率。
Objective: To probe into the diagnostic method of chromosome minor translocation to provide a reliable basis for genetic counseling. Methods: The karyotypes of G-banding of chromosomes and high-resolution chromosomes were determined in this family. Fluorescence in situ hybridization (FISH) and whole-genome copy number variation (CNV) . Results: Conventional G banding and high-resolution chromosome karyotype analysis results: Example 1 chromosome karyotype 46, XX,? 5p; Example 2 chromosome karyotype 46, XX; Example 3 chromosome karyotype 46, XY,? 5p . The results of FISH showed that the karyotype was 46, XX, t (4; 5) (q34.2; p14.1); Example 3 Karyotype 46, XY, der (5) t (4; 5) (q34.2; p14.1). CNV results: Example 3 is 4q34.2-35.2 repeat 13Mb, 5p15.33-14.1 heterozygous deletion 25 Mb. The chromosome 4 long arm ends repeat 13Mb, chromosome 5 short arm ends missing 25Mb. Conclusion: On the basis of preliminary clinical diagnosis, chromosome analysis, high-resolution detection and molecular genetic diagnosis of patients with microtranslocation syndrome in order to take early intervention to reduce the birth rate of patients with minimal translocation syndrome.