一名生殖器模糊的XX/XY女性的推测性嵌合起源。
Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.
作者信息
Zuffardi O, Gargantini L, Lambiase S, Lo Curto F, Maraschio P, Ford C E
出版信息
J Med Genet. 1987 Mar;24(3):177-80. doi: 10.1136/jmg.24.3.177.
Abstract
A child with ambiguous genitalia had an XX/XY karyotype in all tissues examined. Analyses of 11 informative polymorphisms, both chromosomal and genetic (Rh and HLA), showed no difference between the two cell lines. It is unlikely that the child originated from fertilisation of the egg and the second polar body by two sperms; therefore, we hypothesise that the child originated from an XXY zygote after mitotic errors during cleavage. Recent findings of differences in the chromosome constitution between the extra-embryonic tissues and the fetus support this view.
摘要
一名生殖器模糊的儿童在所有检测组织中均具有XX/XY核型。对11种信息性多态性（包括染色体和基因多态性，如Rh和HLA）进行分析，结果显示两条细胞系之间没有差异。该儿童不太可能是由两个精子分别使卵子和第二极体受精而产生的；因此，我们推测该儿童起源于卵裂期有丝分裂错误后形成的XXY合子。最近关于胚外组织和胎儿染色体组成差异的研究结果支持了这一观点。
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