Watt J L, Couzin D A, Johnston A W, Jandial V, Gray E S
J Med Genet. 1981 Jun;18(3):225-7. doi: 10.1136/jmg.18.3.225.
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.
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。
