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一名人类真两性畸形患者中46,XX/46,XY嵌合体的起源

Origin of chi46,XX/46,XY chimerism in a human true hermaphrodite.

作者信息

Dewald G, Haymond M W, Spurbeck J L, Moore S B

出版信息

Science. 1980 Jan 18;207(4428):321-3. doi: 10.1126/science.7350665.

Abstract

Using chromosome heteromorphisms and blood cell types as genetic markers, we demonstrated chimerism in a chi46,XX/46,XY true hermaphrodite. The pattern of inheritance of the chromosome heteromorphisms indicates that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the ovum and subsequent fusion of the two zygotes. This conclusion is based on the identification of the same maternal chromosomes 13, 16, and 21 in both the 46,XX and 46,XY cells of the patient. In the two cell lines of the chimera, chromosomal markers showed different paternal No. 9 chromosomes and sex chromosomes, as well as the same paternal chromosome 22.

摘要

利用染色体异态性和血细胞类型作为遗传标记,我们在一名核型为46,XX/46,XY的真两性畸形患者中证实了嵌合体现象。染色体异态性的遗传模式表明,该个体可能是由两个不同的精子分别使一个卵子和该卵子第二次减数分裂极体受精,随后两个受精卵融合而形成的。这一结论是基于在患者的46,XX和46,XY细胞中均鉴定出相同的母源13号、16号和21号染色体。在嵌合体的两个细胞系中,染色体标记显示出不同的父源9号染色体和性染色体,以及相同的父源22号染色体。

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