产前检测到特纳综合征合并20号染色体三体镶嵌现象（45,X/46, X, +20） 。 （注：原文中“+0”有误，根据语境推测应为“+20”，已修正后翻译）
Prenatal detection of Turner's syndrome in conjunction with trisomy 20 mosaicism (45,X/46, X, +0).
作者信息
Watt J L, Couzin D A, Johnston A W, Jandial V, Gray E S
出版信息
J Med Genet. 1981 Jun;18(3):225-7. doi: 10.1136/jmg.18.3.225.
Abstract
A case of Turner's syndrome, detected antenatally and complicated by the finding of trisomy 20 mosaicism in 50% of cells from each of two amniotic fluid cultures, is described. Cultures from seven fetal tissues in the subsequent abortus showed a predominance of 45,X cells, but nevertheless suggested the existence of a very low level of trisomy 20 mosaicism in three fetal tissues. The diagnostic dilemma in interpreting trisomy 20 mosaicism is discussed.
摘要
本文描述了一例Turner综合征病例，该病例在产前被检测出，且两份羊水培养物中每份均有50%的细胞存在20三体嵌合现象。后续流产胎儿的七个组织培养显示45,X细胞占优势，但仍提示在三个胎儿组织中存在极低水平的20三体嵌合现象。文中讨论了在解释20三体嵌合现象时的诊断困境。
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