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目的本文报道4例45,X/46,X,r(X)Turner氏综合征的临床表现及细胞遗传学检查情况,对环形成的机理及其与临床表现的关系进行了讨论。各种不同类型及数目的环,其形成主要决定于细胞分裂过程中姐妹染色单体是否发生交换,以及交换发生的次数。临床表现决定于45,X细胞系占的比例,以及r(X)两端丢失片断的大小。
Objective This article reports the clinical manifestations and cytogenetic findings of 4 cases of 45, X / 46, X, r (X) Turner’s syndrome and discusses the mechanism of ring formation and its relationship with clinical manifestations. The various types and numbers of rings formed mainly depend on whether or not sister chromatids are exchanged during the cell division process and how many times the exchange occurs. The clinical manifestations are determined at 45, the proportion of X-cell lines, and the size of missing fragments at both ends of r (X).