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Background: Ring chromosome 11[r (11)] is a rare chromosomal abnormality that forms when both arms of chromosome 11 break, and then reunite with each other. Once a ring chromosome forms, the distal ends of both arms of the chromosome are usually lost. Case Presentation: We reported a 12 years old girl patient with congenital heart disease and distinctive facial features. Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and Single nucleotide polymorphism array were performed to identify genetic causes in the patient. The patient carried r(11)(p15.3q24.1) and 11p15.3-pter non-reciprocal translocation to 21qter, accompanied with 8.9 Mb deletion of 11q24.2q25. A literature review was performed to establish genotype-phenotype correlations of the r (11) and 11q terminal deletion syndrome. Conclusions: To the best of our knowledge, this is the first case of non-reciprocal translocation with a terminal deletion in r (11). These findings provide important information for genetic counseling for this family, and may improve our understanding of the genotype-phenotype correlation of ring chromosome 11 disorders. [ABSTRACT FROM AUTHOR]

Abstract: 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. [Copyright &y& Elsevier]