ANATOMIC AND CHROMOSOMAL-ANOMALIES IN 639 SPONTANEOUS ABORTUSES

ANATOMIC AND CHROMOSOMAL-ANOMALIES IN 639 SPONTANEOUS ABORTUSES
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DOI:
10.1007/bf00329132
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发表时间:
1980-01-01
期刊:
影响因子:
5.3
通讯作者:
AVIRACHAN, S
AVIRACHAN, S
中科院分区:
生物学2区
文献类型:
--
作者:
KAJII, T;FERRIER, A;AVIRACHAN, S

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对某妇产科医院收集的639例自然流产病例进行培养。该样本包括565例连续流产和74例通过形态学和/或临床病史确定的选择性流产。其中,339例为不完整标本,未回收胚胎或胎儿,110例解剖学上明显正常,190例大体异常。在未选择的系列中,对565份标本进行了培养,对402份进行了核型分析; 215份(53.5%)染色体异常。在所选的系列中,74个标本建立在文化和45核型分析,26(57.7%)有异常核型。总共对447例流产(70%)进行了成功的核型分析,其中339例进行了显带研究。在241例(54%)核型分析病例中检测到一个或多个主要染色体异常,其中230例为异常,11例为结构异常。染色体数目异常主要包括常染色体三体(占总核型的31%)、45,X(10%)、三倍体(6.5%)和四倍体(1.8%)。在22种可能的常染色体三体中,除1、5、17和19外的所有常染色体三体都被鉴定出来。检出一例49,XX,+2,+5,+8染色体核型的流产儿。三三体流产中存在的过量常染色体物质相当于单倍体常染色体补体的10%。在11例结构异常流产中,7例为遗传性流产,4例为散发性流产。45,X胚胎的存活率估计为1/300。
A total of 639 spontaneous abortuses collected in a maternity hospital were set up in culture. This sample included 565 unselected consecutive abortuses and 74 selected abortuses ascertained by morphology and/or clinical history. Among these, 339 were incomplete specimens with not recovered embryo or fetus, 110 were anatomically apparently normal and 190 were grossly abnormal. In the unselected series, 565 specimens were cultured and 402 were karyotyped; 215 (53.5%) were chromosomally abnormal. In the selected series, 74 specimens were set up in culture and 45 were karyotyped; 26 (57.7%) had an abnormal karyotype. In all, successful karyotyping was done on 447 abortuses (70%), of which 339 were studied with banding. One or more major chromosome abnormalities were detected in 241 (54%) of the karyotyped cases, 230 of which were anomalies and 11 structural anomalies. Numerical anomalies included primary autosomal trisomies (31% of the total karyotyped), 45,X (10%), triploidy 6.5%) and tetraploidy (1.8%). Of the 22 types of autosomal trisomies possible, all except those for 1, 5, 17 and 19 were identified. An abortus with a 49,XX,+2,+5,+8 karyotype was detected. The excess autosomal material present in the triple trisomic abortus corresponded to 10% of the haploid autosomal complement. Of 11 abortuses with structural abnormalities, 7 were inherited while the other 4 were sporadic. The survival rate of 45,X conceptuses was estimated to be 1 in 300.