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XYY核型、女性表型与性腺发育不全。一例报告。

XYY karyotype, female phenotype and gonadal dysgenesis. A case report.

作者信息

Grace H J, Campbell G D

出版信息

S Afr Med J. 1978 Aug 12;54(7):284-6.

PMID:715611
Abstract

A rare association of female phenotype with the 47,XYY karyotype in a 14-year-old White girl is described. She was studied because of her short stature and proved to have gonadal dysgenesis. She showed no masculinization and there were no Turner stigmata. Her intelligence was normal, she was sociable and her outlook was feminine.

摘要

本文描述了一名14岁白人女孩中罕见的女性表型与47,XYY核型的关联。她因身材矮小接受检查,结果显示患有性腺发育不全。她没有男性化表现,也没有特纳综合征的体征。她智力正常,善于社交,且具有女性的外貌特征。

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