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本文报道一女性的第一、二性征均正常,但GTG和RBG两种核型中均可见到一条X染色体短臂增长,断裂点为Xp22.3。CBG显带确定该增加的片段为Y染色体异染色质区(Yq12)。患者的核型为46,X,t(X;Y)(qter→cen→p22.3::q12.1→qter)运用高分辨R显带方法对异常X染色体DNA复制、失活行为及其表型效应进行了探讨,发现异常X染色体的X部分DNA复制主要发生在S期的第Ⅲ～Ⅳ阶段,而重排片段Yq12则在S期的第Ⅰ～Ⅱ阶段,异常X染色体的失活呈随机性,这种随机失活行为对表型形成无明显影响。
This article reports a female first and second sexual characteristics are normal, but GTG and RBG karyotype can be seen in one of the X chromosome short arm growth, breaking point Xp22.3. CBG banding confirmed that this increased fragment was the Y chromosome heterochromatic region (Yq12). The karyotype of the patient was 46. The high-resolution R banding method was used to detect the aberrant X-chromosome DNA replication and inactivation in X, t (X; Y) (qter → cen → p22.3 :: q12.1 → qter) Phenotypic effects were explored and found that abnormal X chromosome DNA duplication occurs mainly in the stage Ⅲ to Ⅳ of S phase, whereas the rearranged fragment Yq12 is in stage Ⅰ ~ Ⅱ of S phase, abnormal X chromosome inactivation In randomness, this random inactivation had no significant effect on phenotype formation.