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患有弯肢发育异常的性反转XY女性为H-Y阴性。

Sex-reversed XY females with campomelic dysplasia are H-Y negative.

作者信息

Bricarelli F D, Fraccaro M, Lindsten J, Müller U, Baggio P, Carbone L D, Hjerpe A, Lindgren F, Mayerová A, Ringertz H, Ritzén E M, Rovetta D C, Sicchero C, Wolf U

出版信息

Hum Genet. 1981;57(1):15-22. doi: 10.1007/BF00271160.

Abstract

Three families with infants affected with campomelic dysplasia, a genetically determined mesenchymal disease frequently associated with sex reversal were studied. Two XY females with ovarian gonadal differentiation and typical clinical features of campomelic dysplasia could be tested for H-Y antigen and were found to be H-Y negative.

摘要

对三个患有弯肢侏儒症(一种常与性反转相关的遗传性间充质疾病)的婴儿家庭进行了研究。对两名具有卵巢性腺分化且有弯肢侏儒症典型临床特征的XY女性进行了H-Y抗原检测,发现她们为H-Y阴性。

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