运用高分辨率显带技术对两例13号环状染色体病例的研究。

Jones I M, Palmer C G, Weaver D D, Hodes M E

Am J Hum Genet. 1981 Mar;33(2):252-61.

The chromosomes of two patients with ring 13 (r13) were studied using high-resolution RBG banding of prometaphase cells. The rings of the two patients differ slightly in breakpoints. Cell with multiple single, double-sized rings, quadruple-sized rings, rod- and ring-shaped fragments, and fragments showing varied states of condensation were seen, as were cells monosomic for chromosome 13. The evolution of these cell lines as a result of sister chromatid exchange, nondisjunction, ring breakage, and premature chromosome condensation is discussed. Clinical features of these patients reflect the heterogeneity of phenotype for r13 patients. Each case includes a feature of trisomy 13. The significance of mosaicism of cell lines in patients bearing ring chromosomes is considered with respect to variation in clinical findings.

利用前中期细胞的高分辨率RBG显带技术对两名13号环状染色体（r13）患者的染色体进行了研究。两名患者的环状染色体在断点处略有不同。观察到具有多个单环、双环、四环、杆状和环状片段以及呈现不同凝聚状态片段的细胞，以及13号染色体单体细胞。讨论了这些细胞系因姐妹染色单体交换、不分离、环状染色体断裂和染色体过早凝聚而发生的演变。这些患者的临床特征反映了r13患者表型的异质性。每个病例都包括13三体的特征。就临床发现的差异而言，考虑了携带环状染色体患者细胞系嵌合体的意义。