一例完全性睾丸女性化及47,XXY核型病例。

Gerli M, Migliorini G, Bocchini V, Venti G, Ferrarese R, Donti E, Rosi G

J Med Genet. 1979 Dec;16(6):480-3. doi: 10.1136/jmg.16.6.480.

A very rare case of complete testicular feminisation with a 47,XXY sex chromosome complement is described. The X-chromatin is positive. The subject studied, who belongs to a family in which four other members have Morris's syndrome and have a 46,XY karyotype, is a perfect phenotypic female. The endocrine situation is unique and resembles, in part, that of subjects with Klinefelter's syndrome.

本文描述了一例极为罕见的完全性睾丸女性化病例，其性染色体组成为47,XXY。X染色质呈阳性。所研究的对象为表型完美的女性，其家族中有其他四名成员患有莫里斯综合征，核型为46,XY。其内分泌情况独特，部分类似于克兰费尔特综合征患者的情况。