Coleman M, Naidu S, Murphy M, Pines M, Bias W
Georgetown University School of Medicine, Washington, DC.
Brain Dev. 1987;9(5):475-8. doi: 10.1016/s0387-7604(87)80067-0.
The case history of a set of twins with Rett syndrome is presented. The twins test as monozygotic by both blood groups and HLA titers. In a previous generation, the family had three females who died of an unknown degenerative disease on the paternal side of this family. The discussion includes a hypothesis about female genetic disease occurring in a recessive pattern on the X chromosome.
本文介绍了一对患有雷特综合征的双胞胎的病例史。通过血型和HLA滴度检测，这对双胞胎被判定为单卵双胞胎。在上一代，这个家族的父系中有三名女性死于一种不明的退行性疾病。讨论内容包括一个关于X染色体上以隐性模式出现的女性遗传病的假说。
