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这是一个X;Y易位的病例,包括整个Yp和着丝粒以及Xp22.3→pter的缺失.G显带分析揭示断裂点位于Xp22.3和Yq11.2.QFQ和CBG显带证实存在Yq异染色质区,Y染色体着丝粒无受抑制的证据.这位妇女及她的胎儿携有相同的不平衡易位性染色体[(46,X,t(X;Y)(p22.3;q11.2)],并具有正常的女性表型.易位造成了Xp22.3→pter的缺失,结果导致部分Xp单体.这位妇女表现出类似Turner综合征的皮肤纹理改变(三叉点t″,TRC为198)和不相称的身材矮小,以及H-Y抗原滴定度阳
This is a case of X; Y translocation, including the entire Yp and centromeres as well as the absence of Xp22.3 → pter.G-banding analysis revealed that the breakpoint was located at Xp22.3 and Yq11.2. The presence of QFQ and CBG banding confirms There is no evidence of suppression of the centromere of the Y chromosome in the heterochromatic region of Y. The woman and her fetus carry the same chromosomes with unbalanced translocations [(46, X, t (X; Y) (p22.3 ; q11.2)], and has a normal female phenotype. The translocation led to the deletion of Xp22.3 → pter, which resulted in partial Xp monocytosis. The woman showed changes in the skin texture similar to Turner’s syndrome t ", TRC 198) and disproportionate stature, as well as the HY antigen titer yang