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一例XX真两性畸形中的H-Y抗原表达

H-Y antigen expression in a case of XX true hermaphroditism.

作者信息

Moreira-Filho C A, Otto P G, Mustacchi Z, Frota-Pessoa O, Otto P A

出版信息

Hum Genet. 1980;55(3):309-14. doi: 10.1007/BF00290209.

Abstract

Cells from an XX true hermaphrodite expressed a reduced amount of H-Y antigen when compared with normal XY cells and with cells from his father, who had an XY/XX chromosomal constitution. His mother had a normal karyotype and was H-Y negative. The four brothers of the patient were clinically and karyotypically normal. An X-Y interchange followed by random inactivation of the X chromosome is proposed to explain the H-Y antigen titer found in the patient.

摘要

与正常XY细胞以及其父亲(具有XY/XX染色体组成)的细胞相比,一名XX真两性畸形患者的细胞表达的H-Y抗原量减少。患者的母亲核型正常且H-Y抗原呈阴性。患者的四个兄弟在临床和核型方面均正常。有人提出,X-Y染色体互换后随机的X染色体失活可解释该患者体内发现的H-Y抗原滴度情况。

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