对特纳综合征患者以及46,XXp-和46,XXq-核型患者的荧光和放射自显影研究。
Fluorescence and autoradiographic studies in patients with Turner's syndrome and 46,XXp- and 46,XXq- karyotypes.
作者信息
Boczkowski K, Mikkelsen M
出版信息
J Med Genet. 1973 Dec;10(4):350-5. doi: 10.1136/jmg.10.4.350.
Abstract
Two patients with the clinical picture of Turner's syndrome showed a 46,XXp— and a 46,XXq— karyotype identified by a combination of fluorescence and autoradiography. Autoradiography showed that the abnormal X chromosome was indicated in most cells. The Xg findings in case 1 indicated that the abnormal X chromosome was of paternal origin.
摘要
两名具有特纳综合征临床表现的患者，通过荧光和放射自显影相结合的方法，确定其核型分别为46,XXp—和46,XXq—。放射自显影显示，大多数细胞中均显示出异常的X染色体。病例1中的Xg结果表明，异常的X染色体来自父方。
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