Boles D J, Bodurtha J, Nance W E
Department of Human Genetics, Medical College of Virginia, Richmond 23298.
Am J Med Genet. 1987 Sep;28(1):103-9. doi: 10.1002/ajmg.1320280115.
In 1952, Goldenhar described a pair of monozygotic twins who were discordant for epibulbar dermoids, auricular appendages, malformations of the auricle, and hemifacial microsomia. Eighteen twin pairs have subsequently been described in which at least one member exhibited these manifestations. We report on an additional pair of discordant dichorionic monozygotic male twins. All of the 5 monozygotic twin pairs for which placental information is available have been discordant and 2 of these had dichorionic membranes. The failure of discordant monozygotic twins to be limited to monochorionic pairs argues against the hypothesis that developmental abnormalities arising from the placental vascular anastomoses that are commonly found in monozygotic twins is the probable explanation for the discordant expression of these traits in twins.
1952年，戈尔登哈描述了一对单卵双胞胎，他们在眼球表层皮样囊肿、耳附属器、耳廓畸形和半侧颜面短小方面表现不一致。随后又描述了18对双胞胎，其中至少有一名成员表现出这些症状。我们报告了另外一对不一致的双绒毛膜单卵男性双胞胎。在已知胎盘信息的5对单卵双胞胎中，所有双胞胎都表现不一致，其中2对有双绒毛膜。不一致的单卵双胞胎并不局限于单绒毛膜双胞胎，这一事实反驳了以下假设：单卵双胞胎中常见的胎盘血管吻合所导致的发育异常可能是双胞胎中这些特征表达不一致的原因。
