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X/XXX嵌合体的产前诊断及性腺检查结果

Prenatal diagnosis and gonadal findings in X/XXX mosaicism.

作者信息

Kohn G, Cohen M M, Beyth Y, Ornoy A

出版信息

J Med Genet. 1977 Apr;14(2):120-3. doi: 10.1136/jmg.14.2.120.

Abstract

Prenatal diagnosis of a case of X/XXX mosaicism is presented. In spite of the fact that over 50% of the cells cultured from both ovaries were trisomic for the X chromosome, fetal öocytes were rarely found. This case illustrates that the presence of a triple-X cell line, even in a relatively high percentage of ovarian cells, does not necessarily protect the ovary from 'aöogenesis'. This observation might prove useful in the counselling of future cases involving the prenatal detection of sex chromosome mosaicism.

摘要

本文报告了一例X/XXX嵌合体的产前诊断病例。尽管从双侧卵巢培养的细胞中超过50%的细胞X染色体三体,但很少发现胎儿卵母细胞。该病例表明,即使在卵巢细胞中三倍体X细胞系的比例相对较高,也不一定能保护卵巢免受“卵子发生障碍”。这一观察结果可能对未来涉及性染色体嵌合体产前检测的病例咨询有用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/00cb/1013526/92fab4ba4e35/jmedgene00303-0041-a.jpg

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