Lin A E, Garver K L
Department of Medical Genetics, West Penn Hospital, Pittsburgh, Pennsylvania 15224.
Am J Med Genet. 1988 Mar;29(3):529-31. doi: 10.1002/ajmg.1320290309.
We report on monozygotic twins with Turner syndrome (45,X) with discordant phenotypes. One twin had severe neck webbing and extremity edema and died of severe coarctation of the aorta. The other twin had fewer craniofacial anomalies and no congenital heart defect, suggesting a pathogenetic relationship between cardiac abnormality and phenotype severity.
我们报告了一对患有特纳综合征（45,X）且表型不一致的单卵双胞胎。其中一个双胞胎有严重的颈部蹼状畸形和肢体水肿，并死于严重的主动脉缩窄。另一个双胞胎的颅面异常较少且无先天性心脏缺陷，这表明心脏异常与表型严重程度之间存在致病关系。
