Molecular and clinical characterization of patients with a ring chromosome 11
Molecular and clinical characterization of patients with a ring chromosome 11
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DOI：
10.1016/j.ejmg.2012.08.004
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发表时间：
2012-12-01
影响因子：
1.9
通讯作者：
Kant, Sarina G.
中科院分区：
文献类型：
--
作者：
Hansson, Kerstin B. M.;Gijsbers, Antoinet C. J.;Kant, Sarina G.
环状染色体是不常见的细胞遗传学发现，通常与临床特征重叠的相应染色体末端缺失的患者的表型。大多数环状染色体零星出现，很少观察到亲本传递。我们报告了5例携带11号环状染色体的患者，其中3例属于同一家族。进行SNP阵列分析以表征不同的环状染色体，并将临床表型与先前报道的11号环状染色体患者进行比较。(C)2012年Elsevier Masson SAS。All rights reserved.
Ring chromosomes are uncommon cytogenetic findings and are often associated with clinical features overlapping the phenotype of patients with terminal deletions of the corresponding chromosome. Most of the ring chromosomes arise sporadically and parental transmission is rarely observed. We report five patients carrying a ring chromosome 11, with three of the patients belonging to the same family. SNP array analysis was performed to characterize the different ring chromosomes and the clinical phenotypes were compared with previously reported patients with ring chromosome 11. (C) 2012 Elsevier Masson SAS. All rights reserved.