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人类三倍体:额外单倍体补体的亲本来源与部分葡萄胎发育之间的关系。

Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole.

作者信息

Jacobs P A, Szulman A E, Funkhouser J, Matsuura J S, Wilson C C

出版信息

Ann Hum Genet. 1982 Jul;46(3):223-31. doi: 10.1111/j.1469-1809.1982.tb00714.x.

Abstract

One hundred and six triploids were ascertained during a study of 1500 consecutive spontaneous abortions. The mechanism of origin of the additional haploid complement was investigated by comparing parental and foetal cytogenetic heteromorphisms and a histopathological examination of each triploid was done in a subsequent blind study. The mechanism of origin of the additional haploid complement was found to be highly correlated with the development of partial hydatidiform mole and with gestational age. All 51 paternally derived triploids in which a pathologic diagnosis could be made were partial moles, whereas only 3 of 15 maternally derived triploids on which a diagnosis could be made were molar. The mean gestational age of the paternally derived triploids was 122 days while that of the maternally derived triploids was only 74 days. It was suggested that the development of partial mole was primarily associated with the presence of two paternal haploid chromosome complements, the association with relatively long gestational ages being a secondary one consequent upon retention of the molar placentae for many weeks after foetal demise.

摘要

在对1500例连续自然流产的研究中,确定了106例三倍体。通过比较父母和胎儿的细胞遗传学异态性,研究了额外单倍体补体的起源机制,并在随后的盲法研究中对每个三倍体进行了组织病理学检查。发现额外单倍体补体的起源机制与部分葡萄胎的发生及孕周高度相关。所有51例可作出病理诊断的父源三倍体均为部分性葡萄胎,而15例可作出诊断的母源三倍体中只有3例为葡萄胎。父源三倍体的平均孕周为122天,而母源三倍体的平均孕周仅为74天。有人提出,部分性葡萄胎的发生主要与两个父源单倍体染色体补体的存在有关,与相对较长孕周的关联是胎儿死亡后葡萄胎胎盘保留数周后的继发现象。

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