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46,XX/47,XX,+15嵌合体的产前诊断、胎儿病理学及细胞遗传学分析

Prenatal diagnosis, fetal pathology and cytogenetic analysis of a 46,XX/47,XX, + 15 mosaic.

作者信息

Gimelli G, Cuoco C, Porro E, Rehder H, Fraccaro M

出版信息

Prenat Diagn. 1983 Jan;3(1):75-9. doi: 10.1002/pd.1970030116.

Abstract

Mosaic trisomy 15 was prenatally diagnosed on amniotic fluid cells from two consecutive amniocenteses and was confirmed on cells from five different fetal tissues. The proportion of normal versus trisomic cells was consistently higher in the amniotic cell cultures and--with one exception--in the fetal tissues, while serial subcultures gave different results. The slightly atypical external features and internal malformations of the affected fetus as compared to the only clinical observation from the literature are not unusual enough to allow the delineation of a specific malformation pattern.

摘要

通过连续两次羊膜穿刺术获得的羊水细胞,产前诊断出15号染色体镶嵌三体,并在来自五个不同胎儿组织的细胞中得到证实。在羊水细胞培养物中,正常细胞与三体细胞的比例始终较高,在胎儿组织中(有一个例外)也是如此,而连续传代培养则给出了不同的结果。与文献中仅有的临床观察结果相比,受影响胎儿轻微的非典型外部特征和内部畸形并不足以独特到能够勾勒出特定的畸形模式。

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