Leiden University Scholarly Publications

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Hansson, K.B.M.; Gijsbers, A.C.J.; Oostdijk, W.; Rehbock, J.J.B.; Snoo, F. de; Ruivenkamp, C.A.L.; Kant, S.G. (2012)

Molecular and clinical characterization of patients with a ring chromosome 11

Article / Letter to editor
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.
All authors
Hansson, K.B.M.; Gijsbers, A.C.J.; Oostdijk, W.; Rehbock, J.J.B.; Snoo, F. de; Ruivenkamp, C.A.L.; Kant, S.G.
Date
2012-12-28
Volume
55
Issue
12
Pages
708 - 14
DOI
doi:10.1016/j.ejmg.2012.08.004