Tyrkus M, McCorquodale M, Postellon D, Franco-Saenz R
Clin Genet. 1984 Mar;25(3):259-66. doi: 10.1111/j.1399-0004.1984.tb01987.x.
Two cases of atypical gonadal dysgenesis are described. Phenotypes are attributed to unique karyotypes derived from abnormal zygotic states modified by secondary cell line loss. A model is presented which proposes and defines a regulatory locus of Yq (Y-HT) and comments are made regarding the risk of malignancy in such patients.
本文描述了两例非典型性腺发育不全病例。其表型归因于由次级细胞系丢失所改变的异常合子状态衍生出的独特核型。本文提出并定义了一个Yq(Y-HT)调控位点的模型,并对这类患者发生恶性肿瘤的风险进行了评论。