嵌合体作为一名46,XX/46,XY可育真性两性畸形患者的病因。

Chimerism as the etiology of a 46,XX/46,XY fertile true hermaphrodite.

作者信息

Verp M S, Harrison H H, Ober C, Oliveri D, Amarose A P, Lindgren V, Talerman A

机构信息

Department of Obstetrics and Gynecology, Chicago Lying-In Hospital, Illinois.

出版信息

Fertil Steril. 1992 Feb;57(2):346-9. doi: 10.1016/s0015-0282(16)54843-2.

DOI:10.1016/s0015-0282(16)54843-2

PMID:1735486

Abstract

OBJECTIVE

To determine the conceptional events resulting in a 46,XX/46,XY true hermaphrodite and to report the first pregnancy in a 46,XX/46,XY true hermaphrodite with an ovotestis.

DESIGN

Chromosome studies were performed on patient lymphocytes and fibroblasts. Red cell antigens, human leukocyte antigens, and presence of Y-chromosome deoxyribonucleic acid were analyzed. Findings were compared with parental and sibling blood group data.

SETTING

Genetics clinic and laboratories of a university hospital.

RESULTS

These studies demonstrated that our patient is a chimera, with dual maternal and paternal contributions. In addition, despite the presence of an ovotestis, she conceived and delivered a child.

CONCLUSIONS

The mechanism for chimerism in this case could be fertilization of (1) the secondary oocyte and first polar body; (2) the ovum and first polar body; (3) the ovum and second polar body; or (4) fusion of two embryos.

摘要