本文对三例X染色体结构异常46,X,dup(X)(p21);46,X,del(X)(p11);46,X,i(Xq)患者及其父母,用X染色体短臂或长臂上的限制性片段长度多态性(RFLPs)作为遗传标记,研究了异常X染色体的起源和形成机理。结果表明,dup(X)(p21)和del(X)(p11)起源于父方,而i(Xq)起源于母方。dup(X)(p21)是由X染色体姊妹染色单体不均等的互换所引起的,del(X)(p11)是由于X染色体断裂后丢失所致,i(Xq)的发生是由于卵母细胞X染色体着丝粒错分裂。 In this study, we reviewed three patients with X chromosome duplication (X21), 46 (X21), 46 (X21), 46 Or restriction fragment length polymorphism (RFLPs) on the long arm as a genetic marker to study the origin and formation mechanism of aberrant X chromosomes. The results show that dup (X) (p21) and del (X) (p11) originate from the parent and i (Xq) originate from the parent. dup (X) (p21) is caused by an unequal exchange of sister chromatid on the X chromosome, del (X) (p11) due to the loss of the X chromosome upon rupture, and i (Xq) Mother cell X chromosome centromere division division.