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[波兰波美拉尼亚-库亚维地区107对反复自然流产夫妇的细胞遗传学研究结果]

[The results of cytogenetic investigations in 107 couples with recurrent spontaneous abortions from Pomerania-Kujawy region of Poland].

作者信息

Pasińska Magdalena, Haus Olga, Adamczak Rafał, Mucha Barbara, Szymański Wiesław, Ferenc Aleksandra, Ludwikowski Grzegorz, Duszeńko Ewa

机构信息

Katedra i Zaklad Genetyki Klinicznej, Akademii Medycznej, Wrocławiu.

出版信息

Wiad Lek. 2005;58(11-12):630-5.

Abstract

About 10-15% of clinically diagnosed pregnancies end by spontaneous abortion. One of the causes of recurrent abortions is the presence of chromosome aberrations in a parent. The paper presents the results of cytogenetic investigations in 107 couples referred to genetic council clinic because of at least 2 spontaneous abortions. Cytogenetic analysis was performed on peripheral blood lymphocytes after standard 72h PHA-stimulated culture. At least 20 GTG- and CBG-banded metaphases were analyzed in each patient. Fluorescence in situ hybridization technique was used as to precisely define cytogenetic results. Chromosome aberrations were found in 7 couples (6.54%), exclusively in women. Numerical aberration (47,XXX) was present in 1 woman, and balanced structural aberrations in 6 (5.61%). In 3 of them balanced translocations were disclosed: t(7; 19)(p13;p13.3), t(8;16)(q24;q22), and t(3;8)(q21;p21), in 2--inversions: inv(2)(p25q31), inv(17)(p12p13.3), and in 1--der(20). Pericentric inversion of chromosome 9 was found in 3 men. The analysis of nongenetic factors showed that neither age, nor congenital anomalies of uterus could be an important factor causing abortions in analyzed couples with aberrations. However, infections and muta- or teratogenic exposure could contribute to loss of pregnancies in some cases. Authors conclude that karyotype analysis should be an integral part of diagnostics in couples with recurrent abortions.

摘要

临床诊断的妊娠中约有10 - 15%以自然流产告终。反复流产的原因之一是父母一方存在染色体畸变。本文介绍了107对因至少2次自然流产而转诊至遗传咨询门诊的夫妇的细胞遗传学研究结果。在标准的72小时PHA刺激培养后,对外周血淋巴细胞进行细胞遗传学分析。每位患者至少分析20个经GTG和CBG染色的中期细胞。采用荧光原位杂交技术精确确定细胞遗传学结果。在7对夫妇(6.54%)中发现了染色体畸变,且均为女性。1名女性存在数目畸变(47,XXX),6名(5.61%)存在平衡结构畸变。其中3名女性发现平衡易位:t(7; 19)(p13;p13.3)、t(8;16)(q24;q22)和t(3;8)(q21;p21),2名女性存在倒位:inv(2)(p25q31)、inv(17)(p12p13.3),1名女性存在der(20)。3名男性发现9号染色体臂间倒位。非遗传因素分析表明,年龄和子宫先天性异常均不是导致所分析的有染色体畸变夫妇流产的重要因素。然而,感染以及诱变或致畸暴露在某些情况下可能导致妊娠丢失。作者得出结论,核型分析应成为反复流产夫妇诊断的一个组成部分。

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