Hansson Kerstin B M, Gijsbers Antoinet C J, Oostdijk Wilma, Rehbock Jan J B, de Snoo Femke, Ruivenkamp Claudia A L, Kant Sarina G
Dept. of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Eur J Med Genet. 2012 Dec;55(12):708-14. doi: 10.1016/j.ejmg.2012.08.004. Epub 2012 Aug 23.
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.
环状染色体是罕见的细胞遗传学发现，常与相应染色体末端缺失患者的表型重叠的临床特征相关。大多数环状染色体是散发性出现的，很少观察到亲代传递。我们报告了5例携带环状11号染色体的患者，其中3例患者来自同一家族。进行了单核苷酸多态性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环状11号染色体患者进行了比较。
