摘要
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。
A 17-year-old girl was found to have a 46, X, t(X; Y)(qtcr-p22.3:: q1.2.1-qter) karyotype in her lymphocytes. She seemed to be normal. DNA was extracted from her leucocytes and was analysed using DNA probe PY3.4. The results of the molecular hybridization showed that the specific 3.4 kb fragment of the male patient was the same as that of the normal males. The patient was studied systematically in the present investigation, including her clinical stigmas, female gonadal hormones and cytogenetic. The cause of chromosomal abnormal and some related problems were also briefly discussed.
出处
《同济医科大学学报》
CSCD
北大核心
1992年第2期97-99,T142,共4页
Acta Universitatis Medicinae Tongji
关键词
分子杂交
核型
染色体畸变
molecular hybridization
karyotype chromosome aberration
