Bugge M, Petersen M B, Christensen M F
Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
Am J Med Genet. 1994 Aug 15;52(2):223-6. doi: 10.1002/ajmg.1320520219.
We describe a pair of monozygotic (MZ) female twins discordant for gastrochisis. To our knowledge, this is the first such case reported. The zygosity was verified by DNA analysis using highly polymorphic microsatellites. There was no family history of gastroschisis. During pregnancy there was no suspicion of any exposure responsible for the malformation. The number of twin cases described so far does not allow any conclusion as to hereditary factors in the cause of gastroschisis, but the number of families reported with familial gastroschisis suggests that the recurrence risk is higher than previously thought.
我们描述了一对患腹裂的单卵双胎（MZ）女性双胞胎，其中一人患病，另一人未患病。据我们所知，这是首例此类病例报告。通过使用高度多态性微卫星进行DNA分析，验证了双卵性。家族中无腹裂病史。孕期未怀疑有任何导致畸形的暴露因素。目前所描述的双胞胎病例数量尚不足以就腹裂病因中的遗传因素得出任何结论，但报告有家族性腹裂的家庭数量表明，复发风险高于先前的认识。
