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通过超声确定胎儿异常后的胎儿核型。

Fetal karyotype following ascertainment of fetal anomalies by ultrasound.

作者信息

Palmer C G, Miles J H, Howard-Peebles P N, Magenis R E, Patil S, Friedman J M

机构信息

Department of Medical Genetics, Indiana University School of Medicine, Indianapolis 46223.

出版信息

Prenat Diagn. 1987 Oct;7(8):551-5. doi: 10.1002/pd.1970070804.

Abstract

Data pooled from contributors to a Registry for Cytogenetic Abnormalities and PKU (ReCAP) shows an unbalanced chromosome abnormality rate of 27 per cent (29 fetuses) for 107 fetuses with ultrasonically diagnosed fetal anomalies. Of the abnormal, 12 were trisomic, 6 were monosomy X and 6 were structural abnormalities, 4 were mosaics and one triploid.

摘要

从细胞遗传学异常与苯丙酮尿症登记处(ReCAP)的贡献者那里汇总的数据显示,在107例经超声诊断有胎儿异常的胎儿中,染色体异常不平衡率为27%(29例胎儿)。在这些异常情况中,12例为三体性,6例为X单体性,6例为结构异常,4例为嵌合体,1例为三倍体。

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