染色体微阵列分析检测22号同源性染色体罗伯逊易位单亲二倍体一例

Chromosome Microarray Analysis Was Used to Detect a Uniparental Disomy with Robertson Translocation of Homologous Chromosome 22

目的染色体微阵列分析对一例同源性染色体罗伯逊易位单亲二倍体发生机制的探讨。方法针对一例妻子反复自然流产的男性,其染色体核型为45,XY,rob(22;22)(q10;q10),为同源性染色体罗伯逊易位。外周血进行微阵列分析,检测是否为单亲二倍体。结果该男性染色体微阵列分析提示为22号染色体单亲二倍体。结论对于同源性染色体罗伯逊易位的携带者,增加了单亲二倍体的风险。而染色体微阵列为单亲二倍体的检测提供高效的技术平台。

Objective Chromosomal microarray analysis of uniparental disomy with Robertson translocation of homologous chromosomes.Methods The karyotype of a male whose wife suffered recurrent spontaneous abortion was 45,XY,rob(22;22)(q10;Q10)is the Robertson translocation of the homologous chromosome.Peripheral blood was microarray analyzed to detect whether it was uniparental disomy.Results The analysis of the male chromosome microarray revealed auniparental disomy of chromosome 22.Conclusion For carriers of the Robertson translocation of homologous chromosomes,the risk of UPD is increased.Thus,chromosome microarray provides an efficient technology platform for the detection of uniparental disomy.