Article
Molecular and clinical characterization of patients with a ring chromosome 11.
European journal of medical genetics - 1 Dec 2012
Hansson Kerstin B M, Gijsbers Antoinet C J, Oostdijk Wilma, Rehbock Jan J B, de Snoo Femke, Ruivenkamp Claudia A L, Kant Sarina G
Abstract excerpt
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...
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