家族性染色体复杂重排的分子细胞遗传学研究

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。

Molecular cytogenetic analysis for a familial complex chromosomal rearrangement

Objective To determine a complex chromosomal re ar rangement by advanced molecular cytogenetic techniques and analyze its clinical effect. Methods A complex chromosomal rearrangement (CCR) invol ved in chromosomes 5, 16 and 20 in a 29-year-old male carrier was determined b y chro mosomal microdissection and multicolor fluorescence in situ hybridization(M -FIS H), and family degree investigation was further performed. Results The karyotype of the case was a complex chromoso mal translocation among chromosomes 5, 20 and 16, and accompanied with a band of chromosome 20 inserted into chromosome 5. His mother and sister both had the same abnormal karyotype by familial investigation. Conclusion The c ombined use of M-FISH and chromosome microdissection is a powerful tool to dete rmine CCR. The complex chromosomal rearrangement could be transmitted stably in the family, but still the carriers could give birth to a healthy baby by chance.