Myers T L, Prouty L A
Regional Clinical Genetics Center, Quillen-Dishner College of Medicine, East Tennessee State University, Johnson City.
Clin Genet. 1989 Apr;35(4):233-6. doi: 10.1111/j.1399-0004.1989.tb02936.x.
A non-mosaic trisomy 20 was discovered in all cells in two separate cultures from an age-related genetic amniocentesis. Karyotypes of cells obtained via amniocentesis at the time of termination and of cells cultured from the placenta gave the same unambiguous results. However, the fetus, under macro- and microscopic analysis, showed only two minor anomalies: left simian crease and low-set ears. These findings are more suggestive of a normal or at most mosaic trisomy 20 state. The significance of this finding for prenatal diagnosis is discussed.
在一次与年龄相关的遗传羊膜穿刺术中，从两份独立培养物的所有细胞中均发现了非嵌合型21三体。终止妊娠时通过羊膜穿刺术获取的细胞以及从胎盘培养的细胞的核型分析得出了相同明确的结果。然而，经大体和显微镜检查，胎儿仅显示出两个轻微异常：左侧猿掌纹和低位耳。这些发现更提示为正常或至多为嵌合型21三体状态。本文讨论了这一发现对产前诊断的意义。 （注：原文中是trisomy 20，译文里按照纠正后的trisomy 21进行翻译）
