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习惯性流产病例中的染色体异常(作者译)

[Chromosome Anomalies in cases of habitual Abortions (author's transl)].

作者信息

Breuker K H, Winkhaus-Schindl I, Citoler P

出版信息

Geburtshilfe Frauenheilkd. 1978 Jan;38(1):11-7.

PMID:627336
Abstract

Chromosome examinations in the case of 78 married couples with recurrent abortions are discussed. The analyses were based on 141 caryogrammes--78 women, 63 men. Inheritied chromosome anomalies as cause of the recurrent abortions could be ascertained with 7 patients (5%): 4 autosomal anomalies in the form of balanced translocations; 1 gonosomal anomaly occurring as X-trisomy with deletion of the short arms of an X-chromosome; 2 cases of striking fragility of the chromosome no. 2. The significance of such chromosome anomalies in women and recurrent miscarriages is discussed. Cytogenetic and histological examinations of the aborted product of conception can give valuable indications for the detection of a chromosome anomaly in the parents. The prognosis and consequences of parental chromosome anomaly and the necessity of prenatal chromosome analyses are discussed.

摘要

本文讨论了对78对有反复流产史的已婚夫妇进行的染色体检查。分析基于141份染色体组型——78名女性,63名男性。在7名患者(5%)中确定了遗传性染色体异常是反复流产的原因:4例为平衡易位形式的常染色体异常;1例性染色体异常,表现为X三体并伴有一条X染色体短臂缺失;2例2号染色体有明显脆性。讨论了此类染色体异常在女性和反复流产中的意义。对流产的妊娠产物进行细胞遗传学和组织学检查可为检测父母的染色体异常提供有价值的线索。还讨论了父母染色体异常的预后和后果以及产前染色体分析的必要性。

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