论文部分内容阅读
目的 应用荧光原位杂交技术对1例染色体异常患者进行分析。方法 对经细胞遗传学提示的染色体结构异常的病例,选用1、18号染色体探针池进行涂染。结果 证实患者由于染色体不平衡易位导致部分单体和部分三体。结论 1q42qter、18q22qter可能与心脏的发育等胚胎发育过程有关。
Objective To analyze 1 case of chromosomal abnormalities by fluorescence in situ hybridization. Methods The chromosomal abnormalities prompted by cytogenetics were selected by using 1,18 chromosome probes pool. The results confirmed that patients due to chromosomal unbalanced translocation led to some of the monomer and part of the trisomy. Conclusion 1q42qter and 18q22qter may be related to embryonic development such as heart development.