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自然流产的细胞遗传学和组织学分析。

Cytogenetic and histologic analyses of spontaneous abortions.

作者信息

Geisler M, Kleinebrecht J

出版信息

Hum Genet. 1978 Dec 29;45(3):239-51. doi: 10.1007/BF00278723.

Abstract

In a study of spontaneous abortions the correlations between karyotype (166 cases), anamnestic data, and macroscopic and histologic findings in placentas (107 cases) and embryos (73 cases) were analyzed. The main results were: 1. The rate of chromosomal aberrations was 39%. Trisomies predominated (60%), followed by monosomy X (20%), triploidies (14%), and structural aberrations (6%). 2. In trisomies a clear prevalence of female sex constitution (2:1) was observed. In normal karyotypes a slight prevalence of females was seen (1.2:1). 3. With increasing maternal age, more trisomies were found in the abortions. 4. Women whose index abortion had a normal karyotype had a history of fewer births but more abortions. 5. Trisomies of acrocentric chromosomes were mainly chorionic sacs with an embryo, while trisomies of the other autosomes resulted in intact empty sacs. 6. The average developmental stage of the embryos was 5 weeks, with a mean gestational age of 14 weeks. Gross malformations were found in 58% of the embryos.

摘要

在一项关于自然流产的研究中,分析了166例病例的核型、既往史数据以及107例胎盘和73例胚胎的宏观和组织学检查结果之间的相关性。主要结果如下:1. 染色体畸变率为39%。三体占主导(60%),其次是X单体(20%)、三倍体(14%)和结构畸变(6%)。2. 在三体中,观察到明显的女性性别构成优势(2:1)。在正常核型中,女性略有优势(1.2:1)。3. 随着母亲年龄的增加,流产中发现的三体更多。4. 其指数流产核型正常的女性生育史较少但流产较多。5. 近端着丝粒染色体三体主要是有胚胎的绒毛膜囊,而其他常染色体三体则导致完整的空囊。6. 胚胎的平均发育阶段为5周,平均孕周为14周。58%的胚胎存在严重畸形。

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