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一项运用显带技术对人类自然流产进行的细胞遗传学研究。

A cytogenetic study of human spontaneous abortions using banding techniques.

作者信息

Creasy M R, Crolla J A, Alberman E D

出版信息

Hum Genet. 1976 Feb 29;31(2):177-96. doi: 10.1007/BF00296145.

Abstract

The karyotypes of 941 singleton and 42 twin abortuses and 4 cystic placentae were determined. 30.5% of the singletons were chromosomally abnormal; 49.8% of these were trisomic, 23.7% X-monosomics and 17.4% polyploid. 143 trisomies were identified by banding; over a third had an extra chromosome 16, more than 10% an extra 21 or 22 and about 5% an extra 2, 18 or 15. Examples of trisomy 3, 4, 8, 9, 10, 13, 14 and 20 were also encountered. Using the data from two other published studies, the prevalence of different trisomies was estimated and an attempt was made to relate the karyotype of the conceptus to its subsequent development.

摘要

对941例单胎流产儿、42例双胎流产儿以及4例囊性胎盘的核型进行了测定。30.5%的单胎存在染色体异常;其中49.8%为三体,23.7%为X单体,17.4%为多倍体。通过显带鉴定出143例三体;超过三分之一有额外的16号染色体,超过10%有额外的21号或22号染色体,约5%有额外的2号、18号或15号染色体。还发现了3号、4号、8号、9号、10号、13号、14号和20号三体的例子。利用另外两项已发表研究的数据,估计了不同三体的发生率,并尝试将受精卵的核型与其后续发育联系起来。

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