论文部分内容阅读
本文报道一女性的第一、二性征均正常,但GTG显带的核型中可见到下条异常X染色体短臂增长,断裂点为Xp22.3,CBG显带核型中异常X染色体均连接1个额外浅染片段。用凝胶原位杂交法以Y特异DNA探针进行DNA分析,分子杂交图谱与正常男性相一致,证实患者基因组DNA含有DYZ_1重复顺序。故该女性染色体核型为46,X,t(X; Y) (qter→p22.3::q12.1→qter).此外,对患者的临床特征、女性性腺激素、染色体异常产生原因及有关问题作了讨论。
This article reports a female first and second sexual characteristics were normal, but GTG banding karyotype can be seen in the next abnormal X chromosome short arm growth, the breaking point Xp22.3, CBG band karyotype abnormal X chromosome Connect 1 extra light stained segment. Genomic DNA was confirmed to contain the DYZ_1 repeat sequence by gel in situ hybridization with Y-specific DNA probes for DNA analysis. The molecular hybridization pattern was consistent with that of normal males. Therefore, the female karyotype for 46, X, t (X; Y) (qter → p22.3 :: q12.1 → qter) .In addition, the clinical features of patients, female sex hormones, chromosomal abnormalities and related causes The question was discussed.