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目的分析1例原发性闭经患者的染色体畸变,探讨该患者原发性闭经的可能原因。方法采集临床已确诊的原发性闭经患者外周血,并抽提基因组DNA,进行荧光原位杂交和微阵列比较基因组杂交,分析染色体异常。结果微阵列比较基因组杂交显示患者染色体Xp22.31区域存在长1.637Mb片段的三倍体,Xp21.2-q21.1区域存在长52.156 Mb片段的重复片段。结论微阵列比较基因组杂交技术可以检测染色体微小畸变,值得临床推广应用。
Objective To analyze the chromosomal aberration of a patient with primary amenorrhea and to explore the possible causes of the primary amenorrhea. Methods Peripheral blood samples from patients with primary amenorrhea were collected and genomic DNA was extracted. Fluorescence in situ hybridization and microarray were used to compare the genomic DNA hybridization to analyze chromosomal abnormalities. Results Microarray comparative genomic hybridization showed that there was a triploid of 1.637Mb fragment in Xp22.31 region and a repeat fragment of 52.156 Mb fragment in Xp21.2-q21.1 region. Conclusion Microarray comparative genomic hybridization can detect minor chromosomal aberrations and is worthy of clinical application.