[RFLPs study of parental origin and mechanism of 3 cases with X chromosome structural abnormality]

In this study, we analysed the parental origin and mechanism of X chromosome abnormalities in 3 cases by using RFLPs on short or long arm of X chromosome as genetic markers. Their karyotypes were 46,X,dup(X)(p21); 46,X,del(X)(p11); 46,X,i(Xq). The results demonstrated that the dup(X)(p21) and the del(X)(p11) were of paternal origin and i(Xq) was of maternal origin. The dup(X)(p21) arose from an unequal sister chromatid exchange. The del(X) (p11) occurred through X chromosome breakage and deletion mechanism. The i(Xq) resulted from X chromosome centromere misdivision in oocyte.