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超数inv dup(15)标记染色体携带者的精子和胚胎分析

Sperm and embryo analysis in a carrier of supernumerary inv dup(15) marker chromosome.

作者信息

Oracova Eva, Musilova Petra, Kopecna Olga, Rybar Roman, Vozdova Miluse, Vesela Katerina, Rubes Jiri

机构信息

Veterinary Research Institute, Hudcova 70, 621 00 Brno, Czech Republic.

出版信息

J Androl. 2009 May-Jun;30(3):233-9. doi: 10.2164/jandrol.108.006783. Epub 2008 Dec 4.

Abstract

We identified a small, paternally inherited, supernumerary marker chromosome, inv dup(15), in a phenotypically normal and normozoospermic male from a couple with reproductive problems. Sperm analysis by fluorescence in situ hybridization (FISH) showed that the marker was present in 26% of sperm nuclei. The disomy 15 was 10 times higher than in normal control donors. FISH analysis for aneuploidies of the other chromosomes showed an increase in nondisjunction of chromosome 21. We also examined 24 embryos by preimplantation genetic diagnosis, and 10 embryos (41.7%) contained the marker. This report provides information about inheritance of inv dup(15) from a male carrier.

摘要

我们在一对有生殖问题的夫妇中,发现一名表型正常且精子正常的男性携带一条小的、父系遗传的额外标记染色体,即inv dup(15)。通过荧光原位杂交(FISH)进行的精子分析显示,26%的精子核中存在该标记。15号染色体的二体性比正常对照供体高10倍。对其他染色体非整倍体的FISH分析显示21号染色体的不分离增加。我们还通过植入前遗传学诊断检查了24个胚胎,其中10个胚胎(41.7%)含有该标记。本报告提供了关于inv dup(15)从男性携带者遗传的信息。

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