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表型为女性,嵌合体为46,XX/46,XY。

Chimerism 46,XX/46,XY in a phenotypic female.

作者信息

Gencík A, Genciková A, Hrubisko M, Mergancová O

出版信息

Hum Genet. 1980;55(3):407-8. doi: 10.1007/BF00290226.

Abstract

A female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the ABO blood group system by the presence of two different erythrocyte populations, A1O and OO. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient.

摘要

据报道,有一名女性患者存在淋巴细胞染色体嵌合现象(46,XX/46,XY)。通过存在两种不同的红细胞群体A1O和OO,在ABO血型系统中证实了她全身的嵌合现象。体格检查和妇科检查记录均正常,仅存在乳腺发育不全以及长达7年的不育症,后者是对该患者进行基因检查的原因。

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