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自然流产及存活出生人群中8三体病因的分子研究。

Molecular studies of the aetiology of trisomy 8 in spontaneous abortions and the liveborn population.

作者信息

James R S, Jacobs P A

机构信息

Wessex Regional Genetics Laboratory, Salisbury District Hospital, UK.

出版信息

Hum Genet. 1996 Mar;97(3):283-6. doi: 10.1007/BF02185754.

Abstract

We have determined the parental origin in eight cases of constitutional trisomy+ 8. In all four cases of spontaneous abortion, the additional chromosome was maternal in origin and there was evidence for nullichiasmate meiosis I occurring in the genesis of this trisomy. In contrast, all four cases of liveborn trisomy 8 appear to have arisen by a mechanism consistent with the post-zygotic mitotic gain of the additional chromosome.

摘要

我们已确定了8例染色体组型三体性8号染色体病例的亲代来源。在所有4例自然流产病例中,额外的染色体来源于母亲,并且有证据表明这种三体性的发生源于减数分裂I期无交叉互换。相比之下,所有4例存活的8号染色体三体病例似乎都是由一种与合子后有丝分裂时额外染色体增加相一致的机制产生的。

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