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14号染色体三体性嵌合导致不同时间采集的绒毛膜绒毛细胞遗传学差异。

Trisomy 14 mosaicism leading to cytogenetic discrepancies in chorionic villi sampled at different times.

作者信息

Wegner R D, Hohle R, Karkut G, Sperling K

机构信息

Institute of Human Genetics, Free University Berlin, F.R.G.

出版信息

Prenat Diagn. 1988 Mar;8(3):239-43. doi: 10.1002/pd.1970080311.

Abstract

Short- and long-term cultures of chorionic villi obtained in the 11th week of pregnancy revealed trisomy 14. After induced abortion trisomy 14 mosaicism was established in fetal skin and umbilical cord tissue while a second long-term culture of chorionic villi exhibited a normal karyotype. The results of the pathological investigations are discussed with respect to the cytogenetic findings.

摘要

对妊娠11周时获取的绒毛膜绒毛进行短期和长期培养,结果显示14三体。人工流产后,在胎儿皮肤和脐带组织中发现了14三体嵌合体,而对绒毛膜绒毛进行的第二次长期培养显示核型正常。结合细胞遗传学结果对病理检查结果进行了讨论。

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