论文部分内容阅读
目的用分子细胞遗传学技术确诊染色体复杂重排,并探讨其临床效应。方法对1例涉及5号、16号和20号染色体复杂重排核型的男性携带者,应用多色荧光原位杂交和显微切割技术进一步分析确定其核型,并进行家系调查。结果该病例为涉及5号、20号及16号染色体复杂易位,并伴有20号染色体的一个带插入到5号染色体。家系调查发现该病例的母亲及妹妹均有相同的染色体异常。结论多色荧光原位杂交结合显微切割技术能够确诊染色体复杂结构重排。染色体复杂重排仍可在家庭中稳定传递,携带者具有出生正常后代的可能。
Objective To determine the complex rearrangements of chromosomes by molecular cytogenetics and to explore its clinical effect. Methods A male patient with complex rearrangement karyotypes of chromosome 5, 16 and 20 was further analyzed by multicolor fluorescence in situ hybridization and microdissection to determine its karyotype and to conduct a pedigree investigation. Results The case involved a complex translocation of chromosomes 5, 20 and 16 with a band of chromosome 20 inserted on chromosome 5. Pedigree survey found that the mother and sister have the same case of chromosomal abnormalities. Conclusions Multi-color fluorescence in situ hybridization combined with microdissection can confirm chromosome rearrangements. Chromosome complex rearrangement can still be a stable transmission in the family, carriers have the possibility of normal offspring born.