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一种罕见的舍雷舍夫斯基-特纳综合征表型变异型。

An uncommon phenotypical variant in the Shereshevsky-Turner syndrome.

作者信息

Dzenis I G, Antipina N N

出版信息

Hum Genet. 1979;52(3):275-9. doi: 10.1007/BF00278677.

Abstract

Three young girls of short stature and with somatic anomalies typical for the Shereshevsky-Turner syndrome are described. Signs of sexual maturation and menarche appeared on time. Later on, menstrual periods came to resemble juvenile bleedings. Karyotypes determined in lymphocyte culture were 45,X/46,XX/47,XXX; 45,X/46,XXp-; and 46,XXp-, respectively. A possibility of spontaneous sexual maturation in patients with the Shereshevsky-Turner syndrome is discussed.

摘要

本文描述了三名身材矮小且具有典型的舍格伦谢夫斯基-特纳综合征躯体异常的年轻女孩。性成熟体征和月经初潮按时出现。后来,月经周期变得类似于青春期前出血。淋巴细胞培养确定的核型分别为45,X/46,XX/47,XXX;45,X/46,XXp-;以及46,XXp-。文中讨论了舍格伦谢夫斯基-特纳综合征患者自发出现性成熟的可能性。

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