Uchida I A, deSa D J, Whelan D T
Pediatrics. 1983 Mar;71(3):413-7.
Monozygotic twins discordant for Turner's syndrome were both mosaic for 45,X/46,XX in the blood with the same low frequency of 2% to 3% 45,X cells. However, the fibroblasts of the abnormal girl were all uniformly 45,X whereas her normal twin had only 46,XX cells. Monozygosity was confirmed by genetic markers, chromosome variants, and a single monochorionic placenta with a shared vascular circulation. The mechanism by which this disparate pair developed from a single zygote is suggested.
患特纳综合征的单卵双胞胎在血液中均为45,X/46,XX嵌合体，45,X细胞的低频相同，为2%至3%。然而，异常女孩的成纤维细胞均为一致的45,X，而她正常的双胞胎只有46,XX细胞。通过基因标记、染色体变异以及具有共享血管循环的单个单绒毛膜胎盘证实了单卵性。本文提出了这一不同寻常的双胞胎对由单个受精卵发育而来的机制。
