【摘要】 目的:确定额外标记染色体来源,对染色体异常患者进行明确的遗传学诊断。方法:应用比较基因组杂交(comparative genomic hybridization,CGH)和荧光原位杂交(fluorescence in situ hybridization,FISH)技术对1例小标记染色体患者进行分子细胞遗传学检测。结果:显示13号染色体近着丝粒q11-q12区有一明显扩增,提示该额外小标记染色体来源于13号染色体pter→q12。结论:CGH结合FISH技术是鉴别标记染色体来源的又一快速便捷的方法。更多还原

【Abstract】 ObjectiveTo identify the origin of the marker chromosome in a patient with chromosome aberration, and to provide the precise genetic diagnosis. MethodsComparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) were performed to detect the known small marker chromosome in this patient. ResultsThe small marker chromosome originated from chromosome 13pter→q12. ConclusionCGH and FISH can be used to detect the small mar-ker chromosome, which is convenient and quick in detecting the origin of small marker chromosome.更多还原