摘要
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。
A 17-year-old girl was found to have a 46,X,ter rea(X;Y) (qtar→p22.3::q12.1 →qter) karyotype in her lymphocytes. She seemed to be normal. The patient was studied systematically, including her clinical manifestation, female gonadal hormones, and cytogenetics. The cause of chromosomal abnormal and some problems concerned were briefly discussed. The DNA replication behaviour of abnormal X had two kinds of patterns—early replication (56.52%) and late replication (43.48%).
Our results suggest that the phenotype of Turner's syndrome be related to both the structural abnormality pattern and inactivation behaviour, and the latter (?)robably plays an important role in the (?)ecision of phenotype.
出处
《遗传与疾病》
CSCD
北大核心
1989年第2期78-80,125-126,共3页
