染色体非平衡易位的分子细胞遗传学研究

Molecular cytogenetics study in a case with unbalanced chromosome translocation

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 the chromosome structural aberration in a case of unbalanced chromosome translocation by fluorescence in situ hybridization technique.Methods The 1,18 whole chromosome specific painting probes were used to confirm chromosome abnormality suggested by high resolution G banding examination.Results An unbalanced translocation t(1;18) (q42;q22) was detected in the patient, which caused partial trisomy of 1q42 qter and partial monosomy of 18q22 qter.Conclusion The identified translocation suggested a potential site for congenital heart disease.