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目的探讨多种细胞与分子遗传学技术在诊断性染色体复杂结构异常病例中的临床应用价值。方法综合应用染色体G显带、染色体微阵列分析技术(chromosomal microarray analysis,CMA)、聚合酶链式反应(polymerase chain reaction,PCR)及荧光原位杂交(fluorescence in situ hybridization,FISH)技术,诊断11例性染色体复杂结构异常患者的染色体畸变来源及结构特征。结果 G显带结合CMA、FISH检测确定了11例患者的性染色体复杂结构来源,8例社会性别为女性的患者中,4例患者的衍生性染色体的异常片段来源于X染色体,4例患者的衍生性染色体异常结构涉及X染色体和Y染色体重组;3例社会性别为男性的患者中,均存在Y染色体的部分缺失。11例患者中有3例性发育异常男性患者和1例身材矮小的女性患者存在SRY基因扩增产物。结论联合应用多种细胞与分子遗传学技术可为性染色体复杂结构异常患者的明确诊断、发病机制研究及后期治疗提供重要的遗传学依据。
Objective To investigate the clinical value of multiple cell and molecular genetics techniques in the diagnosis of complex structural abnormalities in diagnostic chromosomes. Methods Chromosome G-banding, chromosomal microarray analysis (CMA), polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) Chromosome Aberrations and Structural Features in Patients with Abnormal Complex Chromosomes. Results G-banding combined with CMA, FISH detection identified 11 patients with sex chromosomes of the complex source of structure, 8 cases of gender-female patients, 4 patients with abnormal chromosome derived chromosome X chromosome, 4 patients Derivative chromosome abnormalities involving the X chromosome and Y chromosome recombination; 3 cases of gender male patients, there is a partial deletion of the Y chromosome. SRY gene amplification products were present in 3 of 11 patients with dysplasia and in 1 patient of short stature. Conclusion Combined application of multiple cell and molecular genetics techniques can provide important genetic evidence for the diagnosis, pathogenesis and post-treatment of patients with complex structural abnormalities in sex chromosomes.